Linked Data
ClinVar Variation Id:
726208
ClinVar RCV Id:
RCV000900390
dbSNP Id:
rs368102183
ExAC:
14:34269610 T / G
gnomAD v2:
14-34269610-T-G
gnomAD v3:
14-33800404-T-G
gnomAD v4:
14-33800404-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.33800404T>G , CM000676.2:g.33800404T>G | GRCh38 |
| NC_000014.8:g.34269610T>G , CM000676.1:g.34269610T>G | GRCh37 |
| NC_000014.7:g.33339361T>G | NCBI36 |
| NG_013036.1:g.866152T>G | |
| NG_013036.2:g.866152T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356141.9:c.2097T>G MANE Select | ENSP00000348460.4:p.Gly699= | |
| ENST00000551634.6:c.2106T>G | ENSP00000448373.2:p.Gly702= | |
| ENST00000680362.1:c.1997T>G | ||
| ENST00000681323.1:c.793+2823T>G | ||
| ENST00000346562.6:c.2001T>G | ENSP00000319610.5:p.Gly667= | |
| ENST00000356141.8:c.2097T>G | ENSP00000348460.4:p.Gly699= | |
| ENST00000357798.9:c.2058T>G | ENSP00000350446.5:p.Gly686= | |
| ENST00000548645.5:c.2007T>G | ENSP00000448916.1:p.Gly669= | |
| ENST00000551492.5:c.2112T>G | ENSP00000450392.1:p.Gly704= | |
| ENST00000551634.5:c.2019T>G | ENSP00000448373.1:p.Gly673= | |
| NM_001164749.1:c.2097T>G | NP_001158221.1:p.Gly699= | |
| NM_001165893.1:c.2007T>G | NP_001159365.1:p.Gly669= | |
| NM_022123.2:c.2001T>G | NP_071406.1:p.Gly667= | |
| NM_173159.2:c.2058T>G | NP_775182.1:p.Gly686= | |
| XM_005267991.2:c.2118T>G | XP_005268048.1:p.Gly706= | |
| XM_005267992.2:c.2112T>G | XP_005268049.1:p.Gly704= | |
| XM_005267993.2:c.2058T>G | XP_005268050.1:p.Gly686= | |
| XM_011537067.1:c.2148T>G | XP_011535369.1:p.Gly716= | |
| XM_011537068.1:c.2139T>G | XP_011535370.1:p.Gly713= | |
| XM_011537069.1:c.2109T>G | XP_011535371.1:p.Gly703= | |
| XM_011537070.1:c.2052T>G | XP_011535372.1:p.Gly684= | |
| XM_011537071.1:c.2019T>G | XP_011535373.1:p.Gly673= | |
| XM_011537072.1:c.1998T>G | XP_011535374.1:p.Gly666= | |
| XM_011537073.1:c.1791T>G | XP_011535375.1:p.Gly597= | |
| XM_011537074.1:c.1791T>G | XP_011535376.1:p.Gly597= | |
| XM_005267991.3:c.2205T>G | XP_005268048.2:p.Gly735= | |
| XM_005267992.3:c.2199T>G | XP_005268049.2:p.Gly733= | |
| XM_011537067.2:c.2148T>G | XP_011535369.1:p.Gly716= | |
| XM_011537069.2:c.2196T>G | XP_011535371.2:p.Gly732= | |
| XM_011537070.2:c.2052T>G | XP_011535372.1:p.Gly684= | |
| XM_011537071.2:c.2106T>G | XP_011535373.2:p.Gly702= | |
| XM_011537072.2:c.1998T>G | XP_011535374.1:p.Gly666= | |
| XM_017021582.1:c.2256T>G | XP_016877071.1:p.Gly752= | |
| XM_017021583.1:c.2247T>G | XP_016877072.1:p.Gly749= | |
| XM_017021584.1:c.2166T>G | XP_016877073.1:p.Gly722= | |
| XM_017021585.1:c.2115T>G | XP_016877074.1:p.Gly705= | |
| XM_017021586.1:c.1791T>G | XP_016877075.1:p.Gly597= | |
| XM_017021587.1:c.1791T>G | XP_016877076.1:p.Gly597= | |
| XM_017021588.1:c.1791T>G | XP_016877077.1:p.Gly597= | |
| NM_001164749.2:c.2097T>G MANE Select | NP_001158221.1:p.Gly699= | |
| NM_001165893.2:c.2007T>G | NP_001159365.1:p.Gly669= | |
| NM_022123.3:c.2001T>G | NP_071406.1:p.Gly667= | |
| NM_173159.3:c.2058T>G | NP_775182.1:p.Gly686= | |
| NM_001394988.1:c.2052T>G | NP_001381917.1:p.Gly684= | |
| NM_001394989.1:c.1998T>G | NP_001381918.1:p.Gly666= |