Linked Data
ClinVar Variation Id:
895045
ClinVar RCV Id:
RCV001136913
dbSNP Id:
rs1416575882
gnomAD v2:
2-97427181-G-T
gnomAD v4:
2-96761444-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.96761444G>T , CM000664.2:g.96761444G>T | GRCh38 |
| NC_000002.11:g.97427181G>T , CM000664.1:g.97427181G>T | GRCh37 |
| NC_000002.10:g.96790908G>T | NCBI36 |
| NG_016608.1:g.5543G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377075.3:c.445G>T MANE Select | ENSP00000366275.2:p.Ala149Ser | |
| ENST00000377075.2:c.445G>T | ENSP00000366275.2:p.Ala149Ser | |
| NM_020184.3:c.445G>T | NP_064569.3:p.Ala149Ser | |
| XM_005263914.2:c.445G>T | XP_005263971.1:p.Ala149Ser | |
| XM_005263915.2:c.445G>T | XP_005263972.1:p.Ala149Ser | |
| XM_011510955.1:c.445G>T | XP_011509257.1:p.Ala149Ser | |
| XM_011510956.1:c.445G>T | XP_011509258.1:p.Ala149Ser | |
| XM_005263914.4:c.445G>T | XP_005263971.1:p.Ala149Ser | |
| XM_005263915.4:c.445G>T | XP_005263972.1:p.Ala149Ser | |
| XM_011510955.3:c.445G>T | XP_011509257.1:p.Ala149Ser | |
| XM_011510956.3:c.445G>T | XP_011509258.1:p.Ala149Ser | |
| NM_020184.4:c.445G>T MANE Select | NP_064569.3:p.Ala149Ser |