Linked Data
ClinVar Variation Id:
307134
ClinVar RCV Id:
RCV000292008
RCV000295579
RCV000335363
RCV000350404
RCV000389848
RCV000402464
RCV002374524
RCV003391080
dbSNP Id:
rs148534854
ExAC:
12:110236608 G / T
gnomAD v2:
12-110236608-G-T
gnomAD v3:
12-109798803-G-T
gnomAD v4:
12-109798803-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.109798803G>T , CM000674.2:g.109798803G>T | GRCh38 |
| NC_000012.11:g.110236608G>T , CM000674.1:g.110236608G>T | GRCh37 |
| NC_000012.10:g.108720991G>T | NCBI36 |
| NG_017090.1:g.39605C>A , LRG_372:g.39605C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261740.7:c.963C>A MANE Select | ENSP00000261740.2:p.Gly321= | |
| ENST00000418703.7:c.963C>A | ENSP00000406191.2:p.Gly321= | |
| ENST00000674908.1:c.*50C>A | ENSP00000502012.1:n.*50C>A | |
| ENST00000675533.1:n.994C>A | ||
| ENST00000675670.1:c.963C>A | ENSP00000502135.1:p.Gly321= | |
| ENST00000676376.1:n.994C>A | ||
| ENST00000261740.6:c.963C>A | ENSP00000261740.2:p.Gly321= | |
| ENST00000418703.6:c.963C>A | ENSP00000406191.2:p.Gly321= | |
| ENST00000536838.1:c.861C>A | ENSP00000444336.1:p.Gly287= | |
| ENST00000537083.5:c.963C>A | ENSP00000442738.1:p.Gly321= | |
| ENST00000538125.5:c.963C>A | ENSP00000437449.1:p.Gly321= | |
| ENST00000541794.5:c.822C>A | ENSP00000442167.1:p.Gly274= | |
| ENST00000544971.5:c.822C>A | ENSP00000443611.1:p.Gly274= | |
| NM_001177428.1:c.822C>A | NP_001170899.1:p.Gly274= | |
| NM_001177431.1:c.861C>A | NP_001170902.1:p.Gly287= | |
| NM_001177433.1:c.822C>A | NP_001170904.1:p.Gly274= | |
| NM_021625.4:c.963C>A , LRG_372t1:c.963C>A | NP_067638.3:p.Gly321= | |
| NM_147204.2:c.963C>A | NP_671737.1:p.Gly321= | |
| XM_005253918.1:c.963C>A | XP_005253975.1:p.Gly321= | |
| XM_011538630.1:c.963C>A | XP_011536932.1:p.Gly321= | |
| XM_011538631.1:c.822C>A | XP_011536933.1:p.Gly274= | |
| XM_011538632.1:c.963C>A | XP_011536934.1:p.Gly321= | |
| XM_011538633.1:c.822C>A | XP_011536935.1:p.Gly274= | |
| XM_011538634.1:c.963C>A | XP_011536936.1:p.Gly321= | |
| XM_011538635.1:c.1116C>A | XP_011536937.1:p.Gly372= | |
| XM_011538636.1:c.1116C>A | XP_011536938.1:p.Gly372= | |
| XM_011538630.2:c.1116C>A | XP_011536932.2:p.Gly372= | |
| XM_011538631.2:c.975C>A | XP_011536933.2:p.Gly325= | |
| XM_011538632.2:c.1116C>A | XP_011536934.2:p.Gly372= | |
| XM_011538633.2:c.975C>A | XP_011536935.2:p.Gly325= | |
| XM_011538634.2:c.1116C>A | XP_011536936.2:p.Gly372= | |
| XM_011538635.2:c.1116C>A | XP_011536937.1:p.Gly372= | |
| XM_017019774.1:c.963C>A | XP_016875263.1:p.Gly321= | |
| NM_021625.5:c.963C>A MANE Select | NP_067638.3:p.Gly321= |