Linked Data
dbSNP Id:
rs528557
gnomAD v2:
20-3651742-C-A
gnomAD v3:
20-3671095-C-A
gnomAD v4:
20-3671095-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.3671095C>A , CM000682.2:g.3671095C>A | GRCh38 |
| NC_000020.10:g.3651742C>A , CM000682.1:g.3651742C>A | GRCh37 |
| NC_000020.9:g.3599742C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000356518.7:c.2151G>T MANE Select | ENSP00000348912.3:p.Gly717= | |
| ENST00000350009.6:c.2073G>T | ENSP00000322550.5:p.Gly691= | |
| ENST00000356518.6:c.2151G>T | ENSP00000348912.2:p.Gly717= | |
| ENST00000379861.8:c.2151G>T | ENSP00000369190.4:p.Gly717= | |
| ENST00000466620.5:n.1712G>T | ||
| ENST00000617732.1:c.*838G>T | ENSP00000483343.1:n.*838G>T | |
| ENST00000619289.4:c.1791G>T | ENSP00000484600.1:p.Gly597= | |
| NM_001282447.1:c.2151G>T | NP_001269376.1:p.Gly717= | |
| NM_025220.3:c.2151G>T | NP_079496.1:p.Gly717= | |
| NM_153202.2:c.2073G>T | NP_694882.1:p.Gly691= | |
| XM_005260843.1:c.2190G>T | XP_005260900.1:p.Gly730= | |
| XM_006723639.1:c.2190G>T | XP_006723702.1:p.Gly730= | |
| XM_006723640.1:c.2181G>T | XP_006723703.1:p.Gly727= | |
| XM_011529366.1:c.2187G>T | XP_011527668.1:p.Gly729= | |
| XM_011529367.1:c.2148G>T | XP_011527669.1:p.Gly716= | |
| XM_011529368.1:c.2112G>T | XP_011527670.1:p.Gly704= | |
| XM_011529373.1:c.1188G>T | XP_011527675.1:p.Gly396= | |
| XR_937151.1:n.2294G>T | ||
| XR_937152.1:n.2294G>T | ||
| XR_937153.1:n.2175G>T | ||
| XR_937154.1:n.2175G>T | ||
| XR_937155.1:n.2096G>T | ||
| XR_937157.1:n.2098G>T | ||
| NM_001282447.2:c.2151G>T | NP_001269376.1:p.Gly717= | |
| NM_025220.4:c.2151G>T | NP_079496.1:p.Gly717= | |
| NM_153202.3:c.2073G>T | NP_694882.1:p.Gly691= | |
| XM_011529373.2:c.1188G>T | XP_011527675.1:p.Gly396= | |
| XR_001754405.1:n.2262G>T | ||
| XR_002958534.1:n.2371G>T | ||
| NM_001282447.3:c.2151G>T | NP_001269376.1:p.Gly717= | |
| NM_025220.5:c.2151G>T MANE Select | NP_079496.1:p.Gly717= | |
| NM_153202.4:c.2073G>T | NP_694882.1:p.Gly691= |