Linked Data
ClinVar Variation Id:
1008614
ClinVar RCV Id:
RCV001305979
dbSNP Id:
rs1298671907
gnomAD v4:
19-1399812-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1399812G>A , CM000681.2:g.1399812G>A | GRCh38 |
| NC_000019.9:g.1399811G>A , CM000681.1:g.1399811G>A | GRCh37 |
| NC_000019.8:g.1350811G>A | NCBI36 |
| NG_009785.1:g.6742C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252288.8:c.308C>T MANE Select | ENSP00000252288.1:p.Ala103Val | |
| ENST00000447102.8:c.308C>T | ENSP00000403536.2:p.Ala103Val | |
| ENST00000640762.1:c.239C>T | ENSP00000492031.1:p.Ala80Val | |
| ENST00000252288.6:c.308C>T | ENSP00000252288.1:p.Ala103Val | |
| ENST00000447102.7:c.308C>T | ENSP00000403536.2:p.Ala103Val | |
| NM_000156.5:c.308C>T | NP_000147.1:p.Ala103Val | |
| NM_138924.2:c.308C>T | NP_620279.1:p.Ala103Val | |
| NM_000156.6:c.308C>T MANE Select | NP_000147.1:p.Ala103Val | |
| NM_138924.3:c.308C>T | NP_620279.1:p.Ala103Val |