Linked Data
ClinVar Variation Id:
1379994
ClinVar RCV Id:
RCV001886154
dbSNP Id:
rs1806027730
gnomAD v4:
8-54625830-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.54625830G>T , CM000670.2:g.54625830G>T | GRCh38 |
| NC_000008.10:g.55538390G>T , CM000670.1:g.55538390G>T | GRCh37 |
| NC_000008.9:g.55700943G>T | NCBI36 |
| NG_009840.1:g.14764G>T | |
| NG_009840.2:g.14764G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000220676.2:c.1948G>T MANE Select | ENSP00000220676.1:p.Ala650Ser | |
| ENST00000636932.1:c.787+3542G>T | ENSP00000489857.1:n.787+3542G>T | |
| ENST00000637698.1:c.787+3542G>T | ENSP00000490104.1:n.787+3542G>T | |
| ENST00000220676.1:c.1948G>T | ENSP00000220676.1:p.Ala650Ser | |
| NM_006269.1:c.1948G>T | NP_006260.1:p.Ala650Ser | |
| XM_017013721.1:c.1969G>T | XP_016869210.1:p.Ala657Ser | |
| XM_017013722.1:c.1948G>T | XP_016869211.1:p.Ala650Ser | |
| NM_001375654.1:c.787+3542G>T | NP_001362583.1:n.787+3542G>T | |
| NM_006269.2:c.1948G>T MANE Select | NP_006260.1:p.Ala650Ser |