Linked Data
dbSNP Id:
rs566850779
ExAC:
15:72104127 G / A
gnomAD v2:
15-72104127-G-A
gnomAD v3:
15-71811787-G-A
gnomAD v4:
15-71811787-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.71811787G>A , CM000677.2:g.71811787G>A | GRCh38 |
| NC_000015.9:g.72104127G>A , CM000677.1:g.72104127G>A | GRCh37 |
| NC_000015.8:g.69891181G>A | NCBI36 |
| NG_009113.2:g.6233G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617575.5:c.267G>A MANE Select | ENSP00000482504.1:p.Met89Ile | |
| ENST00000617575.4:c.267G>A | ENSP00000482504.1:p.Met89Ile | |
| ENST00000621098.1:c.267G>A | ENSP00000479962.1:p.Met89Ile | |
| ENST00000621736.4:c.3G>A | ENSP00000479254.1:p.Met1Ile | |
| NM_014249.3:c.267G>A | NP_055064.1:p.Met89Ile | |
| NM_016346.3:c.267G>A | NP_057430.1:p.Met89Ile | |
| XM_011521146.1:c.3G>A | XP_011519448.1:p.Met1Ile | |
| NM_014249.4:c.267G>A MANE Select | NP_055064.1:p.Met89Ile | |
| NM_016346.4:c.267G>A | NP_057430.1:p.Met89Ile |