Linked Data
dbSNP Id:
rs373115785
ExAC:
2:38298063 C / T
gnomAD v2:
2-38298063-C-T
gnomAD v3:
2-38070920-C-T
gnomAD v4:
2-38070920-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.38070920C>T , CM000664.2:g.38070920C>T | GRCh38 |
| NC_000002.11:g.38298063C>T , CM000664.1:g.38298063C>T | GRCh37 |
| NC_000002.10:g.38151567C>T | NCBI36 |
| NG_008386.2:g.10182G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000490576.2:c.1434G>A | ENSP00000478839.2:p.Met478Ile | |
| ENST00000610745.5:c.1434G>A MANE Select | ENSP00000478561.1:p.Met478Ile | |
| ENST00000494864.1:c.321G>A | ENSP00000479876.1:p.Met107Ile | |
| ENST00000610745.4:c.1434G>A | ENSP00000478561.1:p.Met478Ile | |
| ENST00000614273.1:c.1434G>A | ENSP00000483678.1:p.Met478Ile | |
| NM_000104.3:c.1434G>A | NP_000095.2:p.Met478Ile | |
| NM_000104.4:c.1434G>A MANE Select | NP_000095.2:p.Met478Ile |