Linked Data
ClinVar Variation Id:
93230
dbSNP Id:
rs398123464
gnomAD v2:
3-135969220-G-A
gnomAD v3:
3-136250378-G-A
gnomAD v4:
3-136250378-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.136250378G>A , CM000665.2:g.136250378G>A | GRCh38 |
| NC_000003.11:g.135969220G>A , CM000665.1:g.135969220G>A | GRCh37 |
| NC_000003.10:g.137451910G>A | NCBI36 |
| NG_008939.1:g.5054G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251654.9:c.3G>A MANE Select | ENSP00000251654.4:p.Met1Ile | |
| ENST00000251654.8:c.3G>A | ENSP00000251654.4:p.Met1Ile | |
| ENST00000462637.5:c.3G>A | ENSP00000420391.1:p.Met1Ile | |
| ENST00000465423.5:c.3G>A | ENSP00000419263.1:p.Met1Ile | |
| ENST00000466072.5:c.3G>A | ENSP00000420158.1:p.Met1Ile | |
| ENST00000468777.5:c.3G>A | ENSP00000419129.1:p.Met1Ile | |
| ENST00000469217.5:c.3G>A | ENSP00000419027.1:p.Met1Ile | |
| ENST00000471595.5:c.3G>A | ENSP00000417549.1:p.Met1Ile | |
| ENST00000478469.5:c.3G>A | ENSP00000420759.1:p.Met1Ile | |
| ENST00000482086.5:c.3G>A | ENSP00000417253.1:p.Met1Ile | |
| ENST00000483687.5:c.3G>A | ENSP00000420639.1:p.Met1Ile | |
| ENST00000484181.5:c.3G>A | ENSP00000417937.1:p.Met1Ile | |
| ENST00000490504.5:c.3G>A | ENSP00000418307.1:p.Met1Ile | |
| NM_000532.4:c.3G>A | NP_000523.2:p.Met1Ile | |
| NM_001178014.1:c.3G>A | NP_001171485.1:p.Met1Ile | |
| XM_011512873.1:c.3G>A | XP_011511175.1:p.Met1Ile | |
| XM_011512873.2:c.3G>A | XP_011511175.1:p.Met1Ile | |
| NM_000532.5:c.3G>A MANE Select | NP_000523.2:p.Met1Ile | |
| NM_001178014.2:c.3G>A | NP_001171485.1:p.Met1Ile |