Linked Data
dbSNP Id:
rs777583211
ExAC:
6:49419395 T / C
gnomAD v2:
6-49419395-T-C
gnomAD v4:
6-49451682-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.49451682T>C , CM000668.2:g.49451682T>C | GRCh38 |
| NC_000006.11:g.49419395T>C , CM000668.1:g.49419395T>C | GRCh37 |
| NC_000006.10:g.49527354T>C | NCBI36 |
| NG_007100.1:g.16458A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274813.4:c.1116A>G MANE Select | ENSP00000274813.3:p.Ile372Met | |
| ENST00000274813.3:c.1116A>G | ENSP00000274813.3:p.Ile372Met | |
| NM_000255.3:c.1116A>G | NP_000246.2:p.Ile372Met | |
| XM_005249143.2:c.1116A>G | XP_005249200.1:p.Ile372Met | |
| XM_005249143.3:c.1116A>G | XP_005249200.1:p.Ile372Met | |
| NM_000255.4:c.1116A>G MANE Select | NP_000246.2:p.Ile372Met |