Linked Data
ClinVar Variation Id:
161569
ClinVar RCV Id:
RCV000149104
dbSNP Id:
rs193920830
gnomAD v4:
4-110618520-C-T
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.110618520C>T , CM000666.2:g.110618520C>T | GRCh38 |
| NC_000004.11:g.111539676C>T , CM000666.1:g.111539676C>T | GRCh37 |
| NC_000004.10:g.111759125C>T | NCBI36 |
| NG_007120.1:g.23833G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000613094.5:c.353G>A | ENSP00000484763.2:p.Arg118His | |
| ENST00000614423.5:c.478G>A | ENSP00000481951.2:p.Ala160Thr | |
| ENST00000616641.5:n.546G>A | ||
| ENST00000644488.2:n.550G>A | ||
| ENST00000394595.8:c.559G>A | ENSP00000378095.4:p.Ala187Thr | |
| ENST00000644488.1:n.622G>A | ||
| ENST00000644743.1:c.580G>A MANE Select | ENSP00000495061.1:p.Ala194Thr | |
| ENST00000645131.1:n.511G>A | ||
| ENST00000306732.7:c.580G>A | ENSP00000304169.3:p.Ala194Thr | |
| ENST00000354925.6:c.559G>A | ENSP00000347004.2:p.Ala187Thr | |
| ENST00000355080.9:c.421G>A | ENSP00000347192.5:p.Ala141Thr | |
| ENST00000394595.7:c.353G>A | ENSP00000378095.3:p.Arg118His | |
| ENST00000394598.6:c.559G>A | ENSP00000378097.2:p.Ala187Thr | |
| ENST00000511837.5:c.559G>A | ENSP00000421454.1:p.Ala187Thr | |
| ENST00000556049.1:n.886G>A | ||
| ENST00000607868.1:n.307G>A | ||
| ENST00000613094.4:c.559G>A | ENSP00000484763.1:p.Ala187Thr | |
| ENST00000614423.4:c.559G>A | ENSP00000481951.1:p.Ala187Thr | |
| ENST00000616641.4:c.421G>A | ENSP00000484909.1:p.Ala141Thr | |
| NM_000325.5:c.580G>A | NP_000316.2:p.Ala194Thr | |
| NM_001204397.1:c.559G>A | NP_001191326.1:p.Ala187Thr | |
| NM_001204398.1:c.559G>A | NP_001191327.1:p.Ala187Thr | |
| NM_001204399.1:c.421G>A | NP_001191328.1:p.Ala141Thr | |
| NM_153426.2:c.559G>A | NP_700475.1:p.Ala187Thr | |
| NM_153427.2:c.421G>A | NP_700476.1:p.Ala141Thr | |
| XM_006714235.2:c.559G>A | XP_006714298.1:p.Ala187Thr | |
| XM_011532027.1:c.421G>A | XP_011530329.1:p.Ala141Thr | |
| XM_024454090.1:c.226G>A | XP_024309858.1:p.Ala76Thr | |
| NM_000325.6:c.580G>A MANE Select | NP_000316.2:p.Ala194Thr | |
| NM_001204397.2:c.559G>A | NP_001191326.1:p.Ala187Thr | |
| NM_153426.3:c.559G>A | NP_700475.1:p.Ala187Thr | |
| NM_153427.3:c.421G>A | NP_700476.1:p.Ala141Thr |