Linked Data
dbSNP Id:
rs1221379827
gnomAD v2:
22-36157362-T-A
gnomAD v3:
22-35761315-T-A
gnomAD v4:
22-35761315-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.35761315T>A , CM000684.2:g.35761315T>A | GRCh38 |
| NC_000022.10:g.36157362T>A , CM000684.1:g.36157362T>A | GRCh37 |
| NC_000022.9:g.34487308T>A | NCBI36 |
| NG_029628.1:g.272224A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695803.1:c.782-21A>T | ENSP00000512183.1:n.782-21A>T | |
| ENST00000695804.1:c.662-21A>T | ENSP00000512184.1:n.662-21A>T | |
| ENST00000695805.1:c.*193-21A>T | ENSP00000512185.1:n.*193-21A>T | |
| ENST00000695806.1:c.*169-21A>T | ENSP00000512186.1:n.*169-21A>T | |
| ENST00000695807.1:c.*112-21A>T | ENSP00000512187.1:n.*112-21A>T | |
| ENST00000695854.1:c.872-21A>T MANE Select | ENSP00000512219.1:n.872-21A>T | |
| ENST00000438146.7:c.872-21A>T | ENSP00000413035.2:n.872-21A>T | |
| ENST00000262829.11:c.605-21A>T | ENSP00000262829.7:n.605-21A>T | |
| ENST00000359369.8:c.599-21A>T | ENSP00000352328.4:n.599-21A>T | |
| ENST00000397303.6:c.602-21A>T | ENSP00000380470.2:n.602-21A>T | |
| ENST00000405409.6:c.662-21A>T | ENSP00000384944.2:n.662-21A>T | |
| ENST00000414461.6:c.659-21A>T | ENSP00000407855.2:n.659-21A>T | |
| ENST00000416721.6:c.659-21A>T | ENSP00000405651.2:n.659-21A>T | |
| ENST00000438146.6:c.872-21A>T | ENSP00000413035.2:n.872-21A>T | |
| ENST00000449924.6:c.659-21A>T | ENSP00000391670.2:n.659-21A>T | |
| ENST00000473487.6:c.599-21A>T | ENSP00000475142.1:n.599-21A>T | |
| ENST00000495377.6:c.217-21A>T | ||
| NM_001031695.2:c.659-21A>T | NP_001026865.1:n.659-21A>T | |
| NM_001082576.1:c.659-21A>T | NP_001076045.1:n.659-21A>T | |
| NM_001082577.1:c.659-21A>T | NP_001076046.1:n.659-21A>T | |
| NM_001082578.1:c.872-21A>T | NP_001076047.1:n.872-21A>T | |
| NM_001082579.1:c.869-21A>T | NP_001076048.1:n.869-21A>T | |
| NM_014309.2:c.662-21A>T | NP_055124.1:n.662-21A>T | |
| XM_005261428.2:c.872-21A>T | XP_005261485.1:n.872-21A>T | |
| XM_005261429.2:c.869-21A>T | XP_005261486.1:n.869-21A>T | |
| XM_005261430.2:c.872-21A>T | XP_005261487.1:n.872-21A>T | |
| XM_005261431.2:c.872-21A>T | XP_005261488.1:n.872-21A>T | |
| XM_005261432.2:c.869-21A>T | XP_005261489.1:n.869-21A>T | |
| XM_005261433.2:c.872-21A>T | XP_005261490.1:n.872-21A>T | |
| XM_005261435.1:c.659-21A>T | XP_005261492.1:n.659-21A>T | |
| XM_005261437.1:c.662-21A>T | XP_005261494.1:n.662-21A>T | |
| XM_006724185.2:c.872-21A>T | XP_006724248.1:n.872-21A>T | |
| XM_006724186.2:c.869-21A>T | XP_006724249.1:n.869-21A>T | |
| XM_006724187.2:c.872-21A>T | XP_006724250.1:n.872-21A>T | |
| XM_006724188.2:c.872-21A>T | XP_006724251.1:n.872-21A>T | |
| XM_006724189.2:c.728-21A>T | XP_006724252.1:n.728-21A>T | |
| XM_006724190.1:c.725-21A>T | XP_006724253.1:n.725-21A>T | |
| XM_006724191.1:c.662-21A>T | XP_006724254.1:n.662-21A>T | |
| XM_006724192.2:c.650-21A>T | XP_006724255.1:n.650-21A>T | |
| XM_006724193.2:c.872-21A>T | XP_006724256.1:n.872-21A>T | |
| XM_006724194.1:c.599-21A>T | XP_006724257.1:n.599-21A>T | |
| XM_011530036.1:c.698-21A>T | XP_011528338.1:n.698-21A>T | |
| NM_001031695.3:c.659-21A>T | NP_001026865.1:n.659-21A>T | |
| NM_001082576.2:c.659-21A>T | NP_001076045.1:n.659-21A>T | |
| NM_001082577.2:c.659-21A>T | NP_001076046.1:n.659-21A>T | |
| NM_001082578.2:c.872-21A>T | NP_001076047.1:n.872-21A>T | |
| NM_001082579.2:c.869-21A>T | NP_001076048.1:n.869-21A>T | |
| NM_001349982.1:c.725-21A>T | NP_001336911.1:n.725-21A>T | |
| NM_001349983.1:c.659-21A>T | NP_001336912.1:n.659-21A>T | |
| NM_001349989.1:c.725-21A>T | NP_001336918.1:n.725-21A>T | |
| NM_001349990.1:c.725-21A>T | NP_001336919.1:n.725-21A>T | |
| NM_001349991.1:c.725-21A>T | NP_001336920.1:n.725-21A>T | |
| NM_001349992.1:c.725-21A>T | NP_001336921.1:n.725-21A>T | |
| NM_001349994.1:c.725-21A>T | NP_001336923.1:n.725-21A>T | |
| NM_001349995.1:c.632-21A>T | NP_001336924.1:n.632-21A>T | |
| NM_001349996.1:c.725-21A>T | NP_001336925.1:n.725-21A>T | |
| NM_001349997.1:c.662-21A>T | NP_001336926.1:n.662-21A>T | |
| NM_001349998.1:c.659-21A>T | NP_001336927.1:n.659-21A>T | |
| NM_001349999.1:c.872-21A>T | NP_001336928.1:n.872-21A>T | |
| NM_014309.3:c.662-21A>T | NP_055124.1:n.662-21A>T | |
| XM_006724189.3:c.728-21A>T | XP_006724252.1:n.728-21A>T | |
| XM_006724193.3:c.872-21A>T | XP_006724256.1:n.872-21A>T | |
| XM_006724194.2:c.599-21A>T | XP_006724257.1:n.599-21A>T | |
| XM_017028686.1:c.698-21A>T | XP_016884175.1:n.698-21A>T | |
| XM_017028687.2:c.794-21A>T | XP_016884176.1:n.794-21A>T | |
| XM_017028688.1:c.869-21A>T | XP_016884177.1:n.869-21A>T | |
| XM_017028690.1:c.680-21A>T | XP_016884179.1:n.680-21A>T | |
| XM_017028691.1:c.677-21A>T | XP_016884180.1:n.677-21A>T | |
| XM_017028693.1:c.662-21A>T | XP_016884182.1:n.662-21A>T | |
| XM_017028696.1:c.662-21A>T | XP_016884185.1:n.662-21A>T | |
| XM_017028697.1:c.599-21A>T | XP_016884186.1:n.599-21A>T | |
| XM_017028698.1:c.659-21A>T | XP_016884187.1:n.659-21A>T | |
| XM_024452188.1:c.791-21A>T | XP_024307956.1:n.791-21A>T | |
| XM_024452189.1:c.602-21A>T | XP_024307957.1:n.602-21A>T | |
| XM_024452190.1:c.602-21A>T | XP_024307958.1:n.602-21A>T | |
| XM_024452191.1:c.647-21A>T | XP_024307959.1:n.647-21A>T | |
| XM_024452192.1:c.599-21A>T | XP_024307960.1:n.599-21A>T | |
| NM_001082578.3:c.872-21A>T | NP_001076047.1:n.872-21A>T | |
| NM_001031695.4:c.659-21A>T | NP_001026865.1:n.659-21A>T | |
| NM_001082576.3:c.659-21A>T | NP_001076045.1:n.659-21A>T | |
| NM_001082577.3:c.659-21A>T | NP_001076046.1:n.659-21A>T | |
| NM_001349982.2:c.725-21A>T | NP_001336911.1:n.725-21A>T | |
| NM_001349983.2:c.659-21A>T | NP_001336912.1:n.659-21A>T | |
| NM_001349989.2:c.725-21A>T | NP_001336918.1:n.725-21A>T | |
| NM_001349990.2:c.725-21A>T | NP_001336919.1:n.725-21A>T | |
| NM_001349991.2:c.725-21A>T | NP_001336920.1:n.725-21A>T | |
| NM_001349992.2:c.725-21A>T | NP_001336921.1:n.725-21A>T | |
| NM_001349994.2:c.725-21A>T | NP_001336923.1:n.725-21A>T | |
| NM_001349995.2:c.632-21A>T | NP_001336924.1:n.632-21A>T | |
| NM_001349996.2:c.725-21A>T | NP_001336925.1:n.725-21A>T | |
| NM_001349997.2:c.662-21A>T | NP_001336926.1:n.662-21A>T | |
| NM_001349998.2:c.659-21A>T | NP_001336927.1:n.659-21A>T | |
| NM_014309.4:c.662-21A>T | NP_055124.1:n.662-21A>T | |
| NM_001082578.4:c.872-21A>T | NP_001076047.2:n.872-21A>T | |
| NM_001082579.3:c.869-21A>T | NP_001076048.2:n.869-21A>T | |
| NM_001349999.2:c.872-21A>T MANE Select | NP_001336928.2:n.872-21A>T | |
| NM_001394108.1:c.866-21A>T | NP_001381037.1:n.866-21A>T | |
| NM_001394109.1:c.776-21A>T | NP_001381038.1:n.776-21A>T | |
| NM_001394110.1:c.776-21A>T | NP_001381039.1:n.776-21A>T | |
| NM_001394111.1:c.776-21A>T | NP_001381040.1:n.776-21A>T | |
| NM_001394112.1:c.869-21A>T | NP_001381041.1:n.869-21A>T | |
| NM_001394113.1:c.869-21A>T | NP_001381042.1:n.869-21A>T | |
| NM_001394114.1:c.872-21A>T | NP_001381043.1:n.872-21A>T | |
| NM_001394115.1:c.869-21A>T | NP_001381044.1:n.869-21A>T |