Linked Data
dbSNP Id:
rs751014541
ExAC:
3:81720040 G / T
gnomAD v2:
3-81720040-G-T
gnomAD v3:
3-81670889-G-T
gnomAD v4:
3-81670889-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.81670889G>T , CM000665.2:g.81670889G>T | GRCh38 |
| NC_000003.11:g.81720040G>T , CM000665.1:g.81720040G>T | GRCh37 |
| NC_000003.10:g.81802730G>T | NCBI36 |
| NG_011810.1:g.95912C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000429644.7:c.378C>A MANE Select | ENSP00000410833.2:p.Ile126= | |
| ENST00000429644.6:c.378C>A | ENSP00000410833.2:p.Ile126= | |
| ENST00000477426.1:n.94C>A | ||
| ENST00000489715.1:c.255C>A | ENSP00000419638.1:p.Ile85= | |
| NM_000158.3:c.378C>A | NP_000149.3:p.Ile126= | |
| NM_000158.4:c.378C>A MANE Select | NP_000149.4:p.Ile126= |