Linked Data
ClinVar Variation Id:
2576835
ClinVar RCV Id:
RCV003323140
dbSNP Id:
rs1445086221
gnomAD v2:
4-88533537-G-A
gnomAD v3:
4-87612385-G-A
gnomAD v4:
4-87612385-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.87612385G>A , CM000666.2:g.87612385G>A | GRCh38 |
| NC_000004.11:g.88533537G>A , CM000666.1:g.88533537G>A | GRCh37 |
| NC_000004.10:g.88752561G>A | NCBI36 |
| NG_011595.1:g.8857G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651931.1:c.199G>A MANE Select | ENSP00000498766.1:p.Gly67Arg | |
| ENST00000282478.7:c.199G>A | ENSP00000282478.7:p.Gly67Arg | |
| ENST00000399271.5:c.199G>A | ENSP00000382213.1:p.Gly67Arg | |
| NM_014208.3:c.199G>A MANE Select | NP_055023.2:p.Gly67Arg |