Linked Data
ClinVar Variation Id:
927243
ClinVar RCV Id:
RCV001190365
dbSNP Id:
rs2077690044
gnomAD v4:
19-11129663-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11129663A>C , CM000681.2:g.11129663A>C | GRCh38 |
| NC_000019.9:g.11240339A>C , CM000681.1:g.11240339A>C | GRCh37 |
| NC_000019.8:g.11101339A>C | NCBI36 |
| NG_009060.1:g.45283A>C , LRG_274:g.45283A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.2798A>C | ENSP00000252444.6:p.Tyr933Ser | |
| ENST00000559340.2:c.*609A>C | ENSP00000453696.2:n.*609A>C | |
| ENST00000560467.2:c.2420A>C | ENSP00000453513.2:p.Tyr807Ser | |
| ENST00000558518.6:c.2540A>C MANE Select | ENSP00000454071.1:p.Tyr847Ser | |
| ENST00000252444.9:c.2794A>C | ||
| ENST00000455727.6:c.2036A>C | ENSP00000397829.2:p.Tyr679Ser | |
| ENST00000535915.5:c.2417A>C | ENSP00000440520.1:p.Tyr806Ser | |
| ENST00000545707.5:c.2006A>C | ENSP00000437639.1:p.Tyr669Ser | |
| ENST00000557933.5:c.2602A>C | ENSP00000453557.1:p.Thr868Pro | |
| ENST00000558013.5:c.2540A>C | ENSP00000453346.1:p.Tyr847Ser | |
| ENST00000558518.5:c.2540A>C | ENSP00000454071.1:p.Tyr847Ser | |
| ENST00000560628.1:n.108+2009A>C | ||
| NM_000527.4:c.2540A>C , LRG_274t1:c.2540A>C | NP_000518.1:p.Tyr847Ser | |
| NM_001195798.1:c.2540A>C | NP_001182727.1:p.Tyr847Ser | |
| NM_001195799.1:c.2417A>C | NP_001182728.1:p.Tyr806Ser | |
| NM_001195800.1:c.2036A>C | NP_001182729.1:p.Tyr679Ser | |
| NM_001195803.1:c.2006A>C | NP_001182732.1:p.Tyr669Ser | |
| XM_011528010.1:c.2462A>C | XP_011526312.1:p.Tyr821Ser | |
| XM_011528011.1:c.2159A>C | XP_011526313.1:p.Tyr720Ser | |
| XM_011528010.2:c.2462A>C | XP_011526312.1:p.Tyr821Ser | |
| XR_001753685.2:n.2874A>C | ||
| XR_001753686.2:n.2517A>C | ||
| NM_000527.5:c.2540A>C MANE Select | NP_000518.1:p.Tyr847Ser | |
| NM_001195798.2:c.2540A>C | NP_001182727.1:p.Tyr847Ser | |
| NM_001195799.2:c.2417A>C | NP_001182728.1:p.Tyr806Ser | |
| NM_001195800.2:c.2036A>C | NP_001182729.1:p.Tyr679Ser | |
| NM_001195803.2:c.2006A>C | NP_001182732.1:p.Tyr669Ser |