Linked Data
ClinVar Variation Id:
638836
ClinVar RCV Id:
RCV000791492
dbSNP Id:
rs1597991801
gnomAD v4:
17-58213053-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58213053A>G , CM000679.2:g.58213053A>G | GRCh38 |
| NC_000017.10:g.56290414A>G , CM000679.1:g.56290414A>G | GRCh37 |
| NC_000017.9:g.53645413A>G | NCBI36 |
| NG_013032.1:g.11553T>C , LRG_687:g.11553T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313863.11:c.787T>C | ENSP00000316631.6:p.Tyr263His | |
| ENST00000393119.7:c.787T>C MANE Select | ENSP00000376827.2:p.Tyr263His | |
| ENST00000537529.7:c.358T>C | ENSP00000442096.3:p.Tyr120His | |
| ENST00000580127.6:c.787T>C | ENSP00000462423.2:p.Tyr263His | |
| ENST00000581761.6:c.787T>C | ENSP00000462129.2:p.Tyr263His | |
| ENST00000585134.2:c.787T>C | ENSP00000463826.2:p.Tyr263His | |
| ENST00000675753.2:c.*406T>C | ENSP00000502156.1:n.*406T>C | |
| ENST00000676787.1:c.658T>C | ENSP00000503999.1:p.Tyr220His | |
| ENST00000676975.1:c.652T>C | ENSP00000503970.1:n.652T>C | |
| ENST00000677076.1:n.2061T>C | ||
| ENST00000677111.1:c.787T>C | ENSP00000504282.1:p.Tyr263His | |
| ENST00000677160.1:n.2061T>C | ||
| ENST00000677416.1:n.812T>C | ||
| ENST00000677475.1:n.2738T>C | ||
| ENST00000677486.1:c.*131T>C | ENSP00000503852.1:n.*131T>C | |
| ENST00000677546.1:c.*131T>C | ENSP00000504043.1:n.*131T>C | |
| ENST00000677709.1:n.812T>C | ||
| ENST00000678011.1:n.812T>C | ||
| ENST00000678211.1:n.2836T>C | ||
| ENST00000678432.1:c.*406T>C | ENSP00000504452.1:n.*406T>C | |
| ENST00000678463.1:c.787T>C | ENSP00000502984.1:p.Tyr263His | |
| ENST00000678481.1:n.588T>C | ||
| ENST00000678568.1:c.*194T>C | ENSP00000504754.1:n.*194T>C | |
| ENST00000678641.1:c.*131T>C | ENSP00000503159.1:n.*131T>C | |
| ENST00000678928.1:n.2414T>C | ||
| ENST00000679081.1:n.2803T>C | ||
| ENST00000313863.10:c.787T>C | ENSP00000316631.6:p.Tyr263His | |
| ENST00000393119.6:c.787T>C | ENSP00000376827.2:p.Tyr263His | |
| ENST00000393120.6:c.*194T>C | ENSP00000376828.2:n.*194T>C | |
| ENST00000537529.6:c.757T>C | ENSP00000442096.2:p.Tyr253His | |
| ENST00000577824.5:c.264T>C | ||
| ENST00000581761.5:c.*194T>C | ENSP00000462129.1:n.*194T>C | |
| ENST00000585134.1:c.10T>C | ENSP00000463826.1:p.Tyr4His | |
| NM_001165927.1:c.757T>C , LRG_687t2:c.757T>C | NP_001159399.1:p.Tyr253His | |
| NM_017777.3:c.787T>C , LRG_687t1:c.787T>C | NP_060247.2:p.Tyr263His | |
| XM_005257483.3:c.787T>C | XP_005257540.1:p.Tyr263His | |
| XM_005257485.3:c.358T>C | XP_005257542.1:p.Tyr120His | |
| XM_005257486.3:c.178T>C | XP_005257543.1:p.Tyr60His | |
| XM_006721965.2:c.178T>C | XP_006722028.1:p.Tyr60His | |
| XM_011524957.1:c.796T>C | XP_011523259.1:p.Tyr266His | |
| XM_011524958.1:c.796T>C | XP_011523260.1:p.Tyr266His | |
| XM_011524959.1:c.796T>C | XP_011523261.1:p.Tyr266His | |
| XM_011524960.1:c.796T>C | XP_011523262.1:p.Tyr266His | |
| XR_934494.1:n.844T>C | ||
| NM_001321268.1:c.178T>C | NP_001308197.1:p.Tyr60His | |
| NM_001321269.1:c.787T>C | NP_001308198.1:p.Tyr263His | |
| NM_001330397.1:c.787T>C | NP_001317326.1:p.Tyr263His | |
| XM_005257485.4:c.358T>C | XP_005257542.1:p.Tyr120His | |
| XM_006721965.3:c.178T>C | XP_006722028.1:p.Tyr60His | |
| XM_011524957.2:c.796T>C | XP_011523259.1:p.Tyr266His | |
| XM_011524958.2:c.796T>C | XP_011523260.1:p.Tyr266His | |
| XM_011524959.2:c.796T>C | XP_011523261.1:p.Tyr266His | |
| XM_011524960.2:c.796T>C | XP_011523262.1:p.Tyr266His | |
| XM_017024804.2:c.787T>C | XP_016880293.1:p.Tyr263His | |
| XM_017024805.1:c.358T>C | XP_016880294.1:p.Tyr120His | |
| XR_002958042.1:n.841T>C | ||
| NM_001321268.2:c.178T>C | NP_001308197.1:p.Tyr60His | |
| NM_001321269.2:c.787T>C | NP_001308198.1:p.Tyr263His | |
| NM_001330397.2:c.787T>C | NP_001317326.1:p.Tyr263His | |
| NM_017777.4:c.787T>C MANE Select | NP_060247.2:p.Tyr263His |