Linked Data
dbSNP Id:
rs759056710
ExAC:
22:24129401 G / T
gnomAD v2:
22-24129401-G-T
gnomAD v3:
22-23787214-G-T
gnomAD v4:
22-23787214-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.23787214G>T , CM000684.2:g.23787214G>T | GRCh38 |
| NC_000022.10:g.24129401G>T , CM000684.1:g.24129401G>T | GRCh37 |
| NC_000022.9:g.22459401G>T | NCBI36 |
| NG_009303.1:g.5252G>T , LRG_520:g.5252G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000263121.12:c.45G>T | ENSP00000263121.8:p.Val15= | |
| ENST00000344921.11:c.45G>T | ENSP00000340883.6:p.Val15= | |
| ENST00000407082.4:c.45G>T | ENSP00000385226.4:p.Val15= | |
| ENST00000407422.8:c.45G>T | ENSP00000383984.3:p.Val15= | |
| ENST00000417137.6:c.45G>T | ENSP00000388489.2:p.Val15= | |
| ENST00000491967.2:n.235G>T | ||
| ENST00000643421.1:n.13G>T | ||
| ENST00000644036.2:c.45G>T MANE Select | ENSP00000494049.2:p.Val15= | |
| ENST00000644619.1:c.45G>T | ENSP00000494695.1:p.Val15= | |
| ENST00000646421.1:n.237G>T | ||
| ENST00000646723.1:n.33G>T | ||
| ENST00000647057.1:c.45G>T | ENSP00000494757.1:p.Val15= | |
| ENST00000263121.11:c.45G>T | ENSP00000263121.7:p.Val15= | |
| ENST00000344921.10:c.45G>T | ENSP00000340883.6:p.Val15= | |
| ENST00000407082.3:c.45G>T | ENSP00000385226.3:p.Val15= | |
| ENST00000407422.7:c.45G>T | ENSP00000383984.3:p.Val15= | |
| ENST00000417137.5:c.45G>T | ENSP00000388489.1:p.Val15= | |
| NM_001007468.1:c.45G>T | NP_001007469.1:p.Val15= | |
| NM_003073.3:c.45G>T , LRG_520t1:c.45G>T | NP_003064.2:p.Val15= | |
| XM_011530345.1:c.45G>T | XP_011528647.1:p.Val15= | |
| XM_011530346.1:c.45G>T | XP_011528648.1:p.Val15= | |
| NM_001007468.2:c.45G>T | NP_001007469.1:p.Val15= | |
| NM_001317946.1:c.45G>T | NP_001304875.1:p.Val15= | |
| NM_001362877.1:c.45G>T | NP_001349806.1:p.Val15= | |
| NM_003073.4:c.45G>T | NP_003064.2:p.Val15= | |
| NM_001007468.3:c.45G>T | NP_001007469.1:p.Val15= | |
| NM_001317946.2:c.45G>T | NP_001304875.1:p.Val15= | |
| NM_001362877.2:c.45G>T | NP_001349806.1:p.Val15= | |
| NM_003073.5:c.45G>T MANE Select | NP_003064.2:p.Val15= |