Linked Data
ClinVar Variation Id:
1546695
ClinVar RCV Id:
RCV002173077
dbSNP Id:
rs1260688458
gnomAD v2:
6-42937507-G-A
gnomAD v3:
6-42969769-G-A
gnomAD v4:
6-42969769-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42969769G>A , CM000668.2:g.42969769G>A | GRCh38 |
| NC_000006.11:g.42937507G>A , CM000668.1:g.42937507G>A | GRCh37 |
| NC_000006.10:g.43045485G>A | NCBI36 |
| NG_008370.1:g.14475C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304611.13:c.1266C>T MANE Select | ENSP00000303511.8:p.Leu422= | |
| ENST00000244546.4:c.1266C>T | ENSP00000244546.4:p.Leu422= | |
| ENST00000304611.12:c.1266C>T | ENSP00000303511.8:p.Leu422= | |
| NM_000287.3:c.1266C>T | NP_000278.3:p.Leu422= | |
| NM_001316313.1:c.1002C>T | NP_001303242.1:p.Leu334= | |
| NR_133009.1:n.1359C>T | ||
| XM_011514661.1:c.1182C>T | XP_011512963.1:p.Leu394= | |
| XR_926246.1:n.1359C>T | ||
| XM_011514661.2:c.1182C>T | XP_011512963.1:p.Leu394= | |
| XR_001743466.2:n.2340C>T | ||
| NM_000287.4:c.1266C>T MANE Select | NP_000278.3:p.Leu422= | |
| NM_001316313.2:c.1002C>T | NP_001303242.1:p.Leu334= | |
| NR_133009.2:n.1297C>T |