Linked Data
ClinVar Variation Id:
456826
dbSNP Id:
rs72656356
gnomAD v3:
7-94401620-G-A
gnomAD v4:
7-94401620-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94401620G>A , CM000669.2:g.94401620G>A | GRCh38 |
| NC_000007.13:g.94030932G>A , CM000669.1:g.94030932G>A | GRCh37 |
| NC_000007.12:g.93868868G>A | NCBI36 |
| NG_007405.1:g.12060G>A , LRG_2:g.12060G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297268.11:c.279G>A MANE Select | ENSP00000297268.6:p.Met93Ile | |
| ENST00000297268.10:c.279G>A | ENSP00000297268.6:p.Met93Ile | |
| ENST00000620463.1:c.273G>A | ENSP00000477719.1:p.Met91Ile | |
| NM_000089.3:c.279G>A , LRG_2t1:c.279G>A | NP_000080.2:p.Met93Ile | |
| NM_000089.4:c.279G>A MANE Select | NP_000080.2:p.Met93Ile |