Linked Data
dbSNP Id:
rs1171570203
gnomAD v2:
19-11240299-G-T
gnomAD v3:
19-11129623-G-T
gnomAD v4:
19-11129623-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11129623G>T , CM000681.2:g.11129623G>T | GRCh38 |
| NC_000019.9:g.11240299G>T , CM000681.1:g.11240299G>T | GRCh37 |
| NC_000019.8:g.11101299G>T | NCBI36 |
| NG_009060.1:g.45243G>T , LRG_274:g.45243G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.2758G>T | ENSP00000252444.6:p.Asp920Tyr | |
| ENST00000559340.2:c.*569G>T | ENSP00000453696.2:n.*569G>T | |
| ENST00000560467.2:c.2380G>T | ENSP00000453513.2:p.Asp794Tyr | |
| ENST00000558518.6:c.2500G>T MANE Select | ENSP00000454071.1:p.Asp834Tyr | |
| ENST00000252444.9:c.2754G>T | ||
| ENST00000455727.6:c.1996G>T | ENSP00000397829.2:p.Asp666Tyr | |
| ENST00000535915.5:c.2377G>T | ENSP00000440520.1:p.Asp793Tyr | |
| ENST00000545707.5:c.1966G>T | ENSP00000437639.1:p.Asp656Tyr | |
| ENST00000557933.5:c.2562G>T | ENSP00000453557.1:p.Arg854Ser | |
| ENST00000558013.5:c.2500G>T | ENSP00000453346.1:p.Asp834Tyr | |
| ENST00000558518.5:c.2500G>T | ENSP00000454071.1:p.Asp834Tyr | |
| ENST00000560628.1:n.108+1969G>T | ||
| NM_000527.4:c.2500G>T , LRG_274t1:c.2500G>T | NP_000518.1:p.Asp834Tyr | |
| NM_001195798.1:c.2500G>T | NP_001182727.1:p.Asp834Tyr | |
| NM_001195799.1:c.2377G>T | NP_001182728.1:p.Asp793Tyr | |
| NM_001195800.1:c.1996G>T | NP_001182729.1:p.Asp666Tyr | |
| NM_001195803.1:c.1966G>T | NP_001182732.1:p.Asp656Tyr | |
| XM_011528010.1:c.2422G>T | XP_011526312.1:p.Asp808Tyr | |
| XM_011528011.1:c.2119G>T | XP_011526313.1:p.Asp707Tyr | |
| XM_011528010.2:c.2422G>T | XP_011526312.1:p.Asp808Tyr | |
| XR_001753685.2:n.2834G>T | ||
| XR_001753686.2:n.2477G>T | ||
| NM_000527.5:c.2500G>T MANE Select | NP_000518.1:p.Asp834Tyr | |
| NM_001195798.2:c.2500G>T | NP_001182727.1:p.Asp834Tyr | |
| NM_001195799.2:c.2377G>T | NP_001182728.1:p.Asp793Tyr | |
| NM_001195800.2:c.1996G>T | NP_001182729.1:p.Asp666Tyr | |
| NM_001195803.2:c.1966G>T | NP_001182732.1:p.Asp656Tyr |