Linked Data
dbSNP Id:
rs1376772140
gnomAD v2:
19-7755345-C-T
gnomAD v3:
19-7690459-C-T
gnomAD v4:
19-7690459-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7690459C>T , CM000681.2:g.7690459C>T | GRCh38 |
| NC_000019.9:g.7755345C>T , CM000681.1:g.7755345C>T | GRCh37 |
| NC_000019.8:g.7661345C>T | NCBI36 |
| NG_029554.1:g.16688G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000597921.6:c.568G>A MANE Select | ENSP00000471974.1:p.Ala190Thr | |
| ENST00000346664.9:c.568G>A | ENSP00000264072.6:p.Ala190Thr | |
| ENST00000360067.8:c.565G>A | ENSP00000353178.4:p.Ala189Thr | |
| ENST00000597312.5:n.1093G>A | ||
| ENST00000597921.5:c.568G>A | ENSP00000471974.1:p.Ala190Thr | |
| ENST00000597934.1:n.930G>A | ||
| ENST00000598803.5:n.1063G>A | ||
| NM_001207019.2:c.565G>A | NP_001193948.2:p.Ala189Thr | |
| NM_001220500.1:c.568G>A | NP_001207429.1:p.Ala190Thr | |
| NM_002002.4:c.568G>A | NP_001993.2:p.Ala190Thr | |
| XM_005272462.3:c.568G>A | XP_005272519.1:p.Ala190Thr | |
| XM_005272462.4:c.568G>A | XP_005272519.1:p.Ala190Thr | |
| NM_001220500.2:c.568G>A MANE Select | NP_001207429.1:p.Ala190Thr | |
| NM_001207019.3:c.565G>A | NP_001193948.2:p.Ala189Thr | |
| NM_002002.5:c.568G>A | NP_001993.2:p.Ala190Thr |