Linked Data
ClinVar Variation Id:
3069246
ClinVar RCV Id:
RCV004007790
dbSNP Id:
rs753716119
ExAC:
19:11240322 C / G
gnomAD v2:
19-11240322-C-G
gnomAD v4:
19-11129646-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11129646C>G , CM000681.2:g.11129646C>G | GRCh38 |
| NC_000019.9:g.11240322C>G , CM000681.1:g.11240322C>G | GRCh37 |
| NC_000019.8:g.11101322C>G | NCBI36 |
| NG_009060.1:g.45266C>G , LRG_274:g.45266C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.2781C>G | ENSP00000252444.6:p.Asn927Lys | |
| ENST00000559340.2:c.*592C>G | ENSP00000453696.2:n.*592C>G | |
| ENST00000560467.2:c.2403C>G | ENSP00000453513.2:p.Asn801Lys | |
| ENST00000558518.6:c.2523C>G MANE Select | ENSP00000454071.1:p.Asn841Lys | |
| ENST00000252444.9:c.2777C>G | ||
| ENST00000455727.6:c.2019C>G | ENSP00000397829.2:p.Asn673Lys | |
| ENST00000535915.5:c.2400C>G | ENSP00000440520.1:p.Asn800Lys | |
| ENST00000545707.5:c.1989C>G | ENSP00000437639.1:p.Asn663Lys | |
| ENST00000557933.5:c.2585C>G | ENSP00000453557.1:p.Thr862Ser | |
| ENST00000558013.5:c.2523C>G | ENSP00000453346.1:p.Asn841Lys | |
| ENST00000558518.5:c.2523C>G | ENSP00000454071.1:p.Asn841Lys | |
| ENST00000560628.1:n.108+1992C>G | ||
| NM_000527.4:c.2523C>G , LRG_274t1:c.2523C>G | NP_000518.1:p.Asn841Lys | |
| NM_001195798.1:c.2523C>G | NP_001182727.1:p.Asn841Lys | |
| NM_001195799.1:c.2400C>G | NP_001182728.1:p.Asn800Lys | |
| NM_001195800.1:c.2019C>G | NP_001182729.1:p.Asn673Lys | |
| NM_001195803.1:c.1989C>G | NP_001182732.1:p.Asn663Lys | |
| XM_011528010.1:c.2445C>G | XP_011526312.1:p.Asn815Lys | |
| XM_011528011.1:c.2142C>G | XP_011526313.1:p.Asn714Lys | |
| XM_011528010.2:c.2445C>G | XP_011526312.1:p.Asn815Lys | |
| XR_001753685.2:n.2857C>G | ||
| XR_001753686.2:n.2500C>G | ||
| NM_000527.5:c.2523C>G MANE Select | NP_000518.1:p.Asn841Lys | |
| NM_001195798.2:c.2523C>G | NP_001182727.1:p.Asn841Lys | |
| NM_001195799.2:c.2400C>G | NP_001182728.1:p.Asn800Lys | |
| NM_001195800.2:c.2019C>G | NP_001182729.1:p.Asn673Lys | |
| NM_001195803.2:c.1989C>G | NP_001182732.1:p.Asn663Lys |