Linked Data
dbSNP Id:
rs1224474892
gnomAD v2:
4-100229004-G-A
gnomAD v3:
4-99307847-G-A
gnomAD v4:
4-99307847-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99307847G>A , CM000666.2:g.99307847G>A | GRCh38 |
| NC_000004.11:g.100229004G>A , CM000666.1:g.100229004G>A | GRCh37 |
| NC_000004.10:g.100448027G>A | NCBI36 |
| NG_011435.1:g.18569C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305046.13:c.1121C>T MANE Select | ENSP00000306606.8:p.Thr374Met | |
| ENST00000639454.1:c.1121C>T | ENSP00000491622.1:p.Thr374Met | |
| ENST00000305046.12:c.1121C>T | ENSP00000306606.8:p.Thr374Met | |
| ENST00000506651.5:c.1001C>T | ENSP00000425998.2:p.Thr334Met | |
| ENST00000515694.4:n.3216C>T | ||
| ENST00000625860.2:c.1001C>T | ENSP00000486614.1:p.Thr334Met | |
| NM_000668.5:c.1121C>T | NP_000659.2:p.Thr374Met | |
| NM_001286650.1:c.1001C>T | NP_001273579.1:p.Thr334Met | |
| NM_000668.6:c.1121C>T MANE Select | NP_000659.2:p.Thr374Met | |
| NM_001286650.2:c.1001C>T | NP_001273579.1:p.Thr334Met |