Linked Data
dbSNP Id:
rs755662503
ExAC:
14:39536390 G / A
gnomAD v2:
14-39536390-G-A
gnomAD v3:
14-39067186-G-A
gnomAD v4:
14-39067186-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.39067186G>A , CM000676.2:g.39067186G>A | GRCh38 |
| NC_000014.8:g.39536390G>A , CM000676.1:g.39536390G>A | GRCh37 |
| NC_000014.7:g.38606141G>A | NCBI36 |
| NG_012157.1:g.41048C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307712.11:c.1214C>T MANE Select | ENSP00000306881.6:p.Thr405Met | |
| ENST00000307712.10:c.1214C>T | ENSP00000306881.6:p.Thr405Met | |
| ENST00000537403.5:c.608C>T | ENSP00000444193.1:p.Thr203Met | |
| ENST00000545328.6:c.1127C>T | ENSP00000445393.2:p.Thr376Met | |
| ENST00000553925.1:n.26C>T | ||
| NM_006364.2:c.1214C>T | NP_006355.2:p.Thr405Met | |
| XM_005267262.1:c.1214C>T | XP_005267319.1:p.Thr405Met | |
| XM_011536355.1:c.1214C>T | XP_011534657.1:p.Thr405Met | |
| NM_006364.3:c.1214C>T | NP_006355.2:p.Thr405Met | |
| XM_005267262.2:c.1214C>T | XP_005267319.1:p.Thr405Met | |
| XM_011536355.3:c.1214C>T | XP_011534657.1:p.Thr405Met | |
| XM_017020928.2:c.1214C>T | XP_016876417.1:p.Thr405Met | |
| NM_006364.4:c.1214C>T MANE Select | NP_006355.2:p.Thr405Met |