Linked Data
dbSNP Id:
rs375683972
ExAC:
1:111663207 T / G
gnomAD v2:
1-111663207-T-G
gnomAD v3:
1-111120585-T-G
gnomAD v4:
1-111120585-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.111120585T>G , CM000663.2:g.111120585T>G | GRCh38 |
| NC_000001.10:g.111663207T>G , CM000663.1:g.111663207T>G | GRCh37 |
| NC_000001.9:g.111464730T>G | NCBI36 |
| NG_053089.1:g.24632A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000484310.6:c.448A>C MANE Select | ENSP00000503400.1:p.Ile150Leu | |
| ENST00000539140.6:c.448A>C | ENSP00000437718.1:p.Ile150Leu | |
| ENST00000286692.8:c.448A>C | ENSP00000286692.4:p.Ile150Leu | |
| ENST00000461449.5:n.222A>C | ||
| ENST00000462092.5:n.769A>C | ||
| ENST00000477588.5:n.12A>C | ||
| ENST00000477769.1:n.16A>C | ||
| ENST00000480600.6:n.464A>C | ||
| ENST00000484310.5:n.692A>C | ||
| ENST00000496430.6:c.*135A>C | ENSP00000473779.1:n.*135A>C | |
| ENST00000539140.5:c.448A>C | ENSP00000437718.1:p.Ile150Leu | |
| NM_178454.4:c.448A>C | NP_848549.3:p.Ile150Leu | |
| XM_005270469.1:c.448A>C | XP_005270526.1:p.Ile150Leu | |
| XM_005270470.1:c.448A>C | XP_005270527.1:p.Ile150Leu | |
| XM_006710361.1:c.178A>C | XP_006710424.1:p.Ile60Leu | |
| XM_006710362.1:c.178A>C | XP_006710425.1:p.Ile60Leu | |
| XM_011540707.1:c.448A>C | XP_011539009.1:p.Ile150Leu | |
| XM_011540708.1:c.448A>C | XP_011539010.1:p.Ile150Leu | |
| NM_001349881.1:c.448A>C | NP_001336810.1:p.Ile150Leu | |
| NM_001349882.1:c.448A>C | NP_001336811.1:p.Ile150Leu | |
| NM_001349884.1:c.448A>C | NP_001336813.1:p.Ile150Leu | |
| NM_001349885.1:c.448A>C | NP_001336814.1:p.Ile150Leu | |
| NM_001349886.1:c.178A>C | NP_001336815.1:p.Ile60Leu | |
| NM_001349887.1:c.178A>C | NP_001336816.1:p.Ile60Leu | |
| NM_001349888.1:c.178A>C | NP_001336817.1:p.Ile60Leu | |
| NM_001349889.1:c.58A>C | NP_001336818.1:p.Ile20Leu | |
| NM_001349890.1:c.58A>C | NP_001336819.1:p.Ile20Leu | |
| NM_001349891.1:c.58A>C | NP_001336820.1:p.Ile20Leu | |
| NM_001349892.1:c.58A>C | NP_001336821.1:p.Ile20Leu | |
| NM_001349893.1:c.58A>C | NP_001336822.1:p.Ile20Leu | |
| NM_178454.5:c.448A>C | NP_848549.3:p.Ile150Leu | |
| NR_146301.1:n.705A>C | ||
| NR_146302.1:n.565A>C | ||
| NR_146303.1:n.916A>C | ||
| NR_146304.1:n.776A>C | ||
| NR_146305.1:n.759A>C | ||
| NR_146306.1:n.731A>C | ||
| NR_146307.1:n.804A>C | ||
| NR_146308.1:n.871A>C | ||
| NM_001349881.2:c.448A>C | NP_001336810.1:p.Ile150Leu | |
| NM_001349882.2:c.448A>C | NP_001336811.1:p.Ile150Leu | |
| NM_001349884.2:c.448A>C MANE Select | NP_001336813.1:p.Ile150Leu | |
| NM_001349885.2:c.448A>C | NP_001336814.1:p.Ile150Leu | |
| NM_001349886.2:c.178A>C | NP_001336815.1:p.Ile60Leu | |
| NM_001349887.2:c.178A>C | NP_001336816.1:p.Ile60Leu | |
| NM_001349888.2:c.178A>C | NP_001336817.1:p.Ile60Leu | |
| NM_001349889.2:c.58A>C | NP_001336818.1:p.Ile20Leu | |
| NM_001349890.2:c.58A>C | NP_001336819.1:p.Ile20Leu | |
| NM_001349891.2:c.58A>C | NP_001336820.1:p.Ile20Leu | |
| NM_001349892.2:c.58A>C | NP_001336821.1:p.Ile20Leu | |
| NM_001349893.2:c.58A>C | NP_001336822.1:p.Ile20Leu | |
| NM_178454.6:c.448A>C | NP_848549.3:p.Ile150Leu | |
| NR_146301.2:n.582A>C | ||
| NR_146302.2:n.442A>C | ||
| NR_146303.2:n.793A>C | ||
| NR_146304.2:n.653A>C | ||
| NR_146305.2:n.636A>C | ||
| NR_146306.2:n.608A>C | ||
| NR_146307.2:n.681A>C | ||
| NR_146308.2:n.748A>C |