Linked Data
ClinVar Variation Id:
618197
dbSNP Id:
rs147058538
ExAC:
5:38481770 T / C
gnomAD v2:
5-38481770-T-C
gnomAD v3:
5-38481668-T-C
gnomAD v4:
5-38481668-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.38481668T>C , CM000667.2:g.38481668T>C | GRCh38 |
| NC_000005.9:g.38481770T>C , CM000667.1:g.38481770T>C | GRCh37 |
| NC_000005.8:g.38517527T>C | NCBI36 |
| NG_011817.1:g.118738A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000453190.7:c.3221A>G MANE Select | ENSP00000398368.2:p.Asp1074Gly | |
| ENST00000263409.8:c.3221A>G | ENSP00000263409.4:p.Asp1074Gly | |
| ENST00000453190.6:c.3221A>G | ENSP00000398368.2:p.Asp1074Gly | |
| NM_001127671.1:c.3221A>G | NP_001121143.1:p.Asp1074Gly | |
| NM_002310.5:c.3221A>G | NP_002301.1:p.Asp1074Gly | |
| XM_011514040.1:c.3221A>G | XP_011512342.1:p.Asp1074Gly | |
| XM_011514041.1:c.3221A>G | XP_011512343.1:p.Asp1074Gly | |
| XM_011514042.1:c.3221A>G | XP_011512344.1:p.Asp1074Gly | |
| NM_001364297.1:c.3221A>G | NP_001351226.1:p.Asp1074Gly | |
| NM_001364298.1:c.3188A>G | NP_001351227.1:p.Asp1063Gly | |
| XM_011514042.3:c.3221A>G | XP_011512344.1:p.Asp1074Gly | |
| XM_017009462.1:c.3275A>G | XP_016864951.1:p.Asp1092Gly | |
| XM_017009463.1:c.3221A>G | XP_016864952.1:p.Asp1074Gly | |
| NM_001127671.2:c.3221A>G MANE Select | NP_001121143.1:p.Asp1074Gly | |
| NM_002310.6:c.3221A>G | NP_002301.1:p.Asp1074Gly | |
| NM_001364297.2:c.3221A>G | NP_001351226.1:p.Asp1074Gly | |
| NM_001364298.2:c.3188A>G | NP_001351227.1:p.Asp1063Gly |