Linked Data
ClinVar Variation Id:
4884
dbSNP Id:
rs3745368
gnomAD v2:
19-7735297-G-A
gnomAD v3:
19-7670411-G-A
gnomAD v4:
19-7670411-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7670411G>A , CM000681.2:g.7670411G>A | GRCh38 |
| NC_000019.9:g.7735297G>A , CM000681.1:g.7735297G>A | GRCh37 |
| NC_000019.8:g.7641297G>A | NCBI36 |
| NG_023447.1:g.6326G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000221515.6:c.*62G>A MANE Select | ENSP00000221515.1:n.*62G>A | |
| ENST00000221515.5:c.*62G>A | ENSP00000221515.1:n.*62G>A | |
| ENST00000629642.1:c.*62G>A | ENSP00000485998.1:n.*62G>A | |
| NM_001193374.1:c.*62G>A | NP_001180303.1:n.*62G>A | |
| NM_020415.3:c.*62G>A | NP_065148.1:n.*62G>A | |
| NM_020415.4:c.*62G>A MANE Select | NP_065148.1:n.*62G>A | |
| NM_001193374.2:c.*62G>A | NP_001180303.1:n.*62G>A | |
| NM_001385725.1:c.*62G>A | NP_001372654.1:n.*62G>A | |
| NM_001385726.1:c.*62G>A | NP_001372655.1:n.*62G>A | |
| NM_001385727.1:c.*62G>A | NP_001372656.1:n.*62G>A |