Linked Data
ClinVar Variation Id:
978117
ClinVar RCV Id:
RCV001256058
dbSNP Id:
rs1696158208
gnomAD v4:
1-154571201-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154571201G>A , CM000663.2:g.154571201G>A | GRCh38 |
| NC_000001.10:g.154543677G>A , CM000663.1:g.154543677G>A | GRCh37 |
| NC_000001.9:g.152810301G>A | NCBI36 |
| NG_008027.1:g.8421G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368476.4:c.378G>A MANE Select | ENSP00000357461.3:p.Met126Ile | |
| ENST00000636034.1:c.378G>A | ENSP00000489703.1:p.Met126Ile | |
| ENST00000637900.1:c.384G>A | ENSP00000490474.1:p.Met128Ile | |
| ENST00000368476.3:c.378G>A | ENSP00000357461.3:p.Met126Ile | |
| NM_000748.2:c.378G>A | NP_000739.1:p.Met126Ile | |
| XM_017000180.2:c.-9-124G>A | XP_016855669.1:n.-9-124G>A | |
| XR_001736952.2:n.630G>A | ||
| NM_000748.3:c.378G>A MANE Select | NP_000739.1:p.Met126Ile |