Linked Data
ClinVar Variation Id:
2508070
ClinVar RCV Id:
RCV003254363
dbSNP Id:
rs1395145091
gnomAD v2:
12-85677409-A-G
gnomAD v3:
12-85283631-A-G
gnomAD v4:
12-85283631-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.85283631A>G , CM000674.2:g.85283631A>G | GRCh38 |
| NC_000012.11:g.85677409A>G , CM000674.1:g.85677409A>G | GRCh37 |
| NC_000012.10:g.84201540A>G | NCBI36 |
| NG_023202.1:g.8374A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000316824.4:c.286A>G MANE Select | ENSP00000315417.3:p.Met96Val | |
| ENST00000316824.3:c.286A>G | ENSP00000315417.3:p.Met96Val | |
| NM_006982.2:c.286A>G | NP_008913.2:p.Met96Val | |
| XM_005269165.3:c.286A>G | XP_005269222.1:p.Met96Val | |
| XM_011538782.1:c.1A>G | XP_011537084.1:p.Met1Val | |
| XM_011538783.1:c.1A>G | XP_011537085.1:p.Met1Val | |
| XM_011538782.2:c.1A>G | XP_011537084.1:p.Met1Val | |
| NM_006982.3:c.286A>G MANE Select | NP_008913.2:p.Met96Val |