Linked Data
ClinVar Variation Id:
251531
dbSNP Id:
rs761765254
gnomAD v2:
19-11218182-A-C
gnomAD v3:
19-11107506-A-C
gnomAD v4:
19-11107506-A-C
ERepo:
CA10585200/MONDO:0007750/013
PubMed:
PMID:15556094
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11107506A>C , CM000681.2:g.11107506A>C | GRCh38 |
| NC_000019.9:g.11218182A>C , CM000681.1:g.11218182A>C | GRCh37 |
| NC_000019.8:g.11079182A>C | NCBI36 |
| NG_009060.1:g.23126A>C , LRG_274:g.23126A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.1190A>C | ENSP00000252444.6:p.Lys397Thr | |
| ENST00000559340.2:c.932A>C | ENSP00000453696.2:p.Lys311Thr | |
| ENST00000560467.2:c.932A>C | ENSP00000453513.2:p.Lys311Thr | |
| ENST00000558518.6:c.932A>C MANE Select | ENSP00000454071.1:p.Lys311Thr | |
| ENST00000252444.9:c.1186A>C | ||
| ENST00000455727.6:c.428A>C | ENSP00000397829.2:p.Lys143Thr | |
| ENST00000535915.5:c.809A>C | ENSP00000440520.1:p.Lys270Thr | |
| ENST00000545707.5:c.551A>C | ENSP00000437639.1:p.Lys184Thr | |
| ENST00000557933.5:c.932A>C | ENSP00000453557.1:p.Lys311Thr | |
| ENST00000558013.5:c.932A>C | ENSP00000453346.1:p.Lys311Thr | |
| ENST00000558518.5:c.932A>C | ENSP00000454071.1:p.Lys311Thr | |
| ENST00000558528.1:n.447A>C | ||
| ENST00000560467.1:c.532A>C | ||
| NM_000527.4:c.932A>C , LRG_274t1:c.932A>C | NP_000518.1:p.Lys311Thr | |
| NM_001195798.1:c.932A>C | NP_001182727.1:p.Lys311Thr | |
| NM_001195799.1:c.809A>C | NP_001182728.1:p.Lys270Thr | |
| NM_001195800.1:c.428A>C | NP_001182729.1:p.Lys143Thr | |
| NM_001195803.1:c.551A>C | NP_001182732.1:p.Lys184Thr | |
| XM_011528010.1:c.932A>C | XP_011526312.1:p.Lys311Thr | |
| XM_011528011.1:c.551A>C | XP_011526313.1:p.Lys184Thr | |
| XR_244074.2:n.1082A>C | ||
| XM_011528010.2:c.932A>C | XP_011526312.1:p.Lys311Thr | |
| XR_001753685.2:n.1049A>C | ||
| XR_001753686.2:n.1049A>C | ||
| NM_000527.5:c.932A>C MANE Select | NP_000518.1:p.Lys311Thr | |
| NM_001195798.2:c.932A>C | NP_001182727.1:p.Lys311Thr | |
| NM_001195799.2:c.809A>C | NP_001182728.1:p.Lys270Thr | |
| NM_001195800.2:c.428A>C | NP_001182729.1:p.Lys143Thr | |
| NM_001195803.2:c.551A>C | NP_001182732.1:p.Lys184Thr |