Linked Data
dbSNP Id:
rs756692659
ExAC:
11:116619201 C / T
gnomAD v2:
11-116619201-C-T
gnomAD v3:
11-116748485-C-T
gnomAD v4:
11-116748485-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116748485C>T , CM000673.2:g.116748485C>T | GRCh38 |
| NC_000011.9:g.116619201C>T , CM000673.1:g.116619201C>T | GRCh37 |
| NC_000011.8:g.116124411C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260210.5:c.1857G>A MANE Select | ENSP00000260210.3:p.Met619Ile | |
| ENST00000260210.4:c.1857G>A | ENSP00000260210.3:p.Met619Ile | |
| ENST00000375445.7:c.1455G>A | ENSP00000364594.3:p.Met485Ile | |
| ENST00000419189.1:c.632G>A | ||
| NM_001159736.1:c.1455G>A | NP_001153208.1:p.Met485Ile | |
| NM_032725.3:c.1857G>A | NP_116114.1:p.Met619Ile | |
| XM_011543035.1:c.1758G>A | XP_011541337.1:p.Met586Ile | |
| XM_011543035.2:c.1758G>A | XP_011541337.1:p.Met586Ile | |
| NM_032725.4:c.1857G>A MANE Select | NP_116114.1:p.Met619Ile | |
| NM_001159736.2:c.1455G>A | NP_001153208.1:p.Met485Ile |