Linked Data
dbSNP Id:
rs149544649
gnomAD v3:
4-99307855-G-T
gnomAD v4:
4-99307855-G-T
MyVariant Identifiers:
chr4:g.100229012G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99307855G>T , CM000666.2:g.99307855G>T | GRCh38 |
| NC_000004.11:g.100229012G>T , CM000666.1:g.100229012G>T | GRCh37 |
| NC_000004.10:g.100448035G>T | NCBI36 |
| NG_011435.1:g.18561C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305046.13:c.1113C>A MANE Select | ENSP00000306606.8:p.Thr371= | |
| ENST00000639454.1:c.1113C>A | ENSP00000491622.1:p.Thr371= | |
| ENST00000305046.12:c.1113C>A | ENSP00000306606.8:p.Thr371= | |
| ENST00000506651.5:c.993C>A | ENSP00000425998.2:p.Thr331= | |
| ENST00000515694.4:n.3208C>A | ||
| ENST00000625860.2:c.993C>A | ENSP00000486614.1:p.Thr331= | |
| NM_000668.5:c.1113C>A | NP_000659.2:p.Thr371= | |
| NM_001286650.1:c.993C>A | NP_001273579.1:p.Thr331= | |
| NM_000668.6:c.1113C>A MANE Select | NP_000659.2:p.Thr371= | |
| NM_001286650.2:c.993C>A | NP_001273579.1:p.Thr331= |