Linked Data
dbSNP Id:
rs754093503
gnomAD v2:
22-30051046-C-T
gnomAD v3:
22-29655057-C-T
gnomAD v4:
22-29655057-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.29655057C>T , CM000684.2:g.29655057C>T | GRCh38 |
| NC_000022.10:g.30051046C>T , CM000684.1:g.30051046C>T | GRCh37 |
| NC_000022.9:g.28381046C>T | NCBI36 |
| NG_009057.1:g.56502C>T , LRG_511:g.56502C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361166.10:c.516+332C>T | ENSP00000354529.6:n.516+332C>T | |
| ENST00000673312.2:c.599C>T | ENSP00000500186.2:p.Ala200Val | |
| ENST00000338641.10:c.516+332C>T MANE Select | ENSP00000344666.5:n.516+332C>T | |
| ENST00000361166.9:c.69+332C>T | ENSP00000354529.5:n.69+332C>T | |
| ENST00000672461.1:c.516+332C>T | ENSP00000500919.1:n.516+332C>T | |
| ENST00000672805.1:c.*398+332C>T | ENSP00000500295.1:n.*398+332C>T | |
| ENST00000672896.1:c.516+332C>T | ENSP00000500117.1:n.516+332C>T | |
| ENST00000673312.1:c.512C>T | ENSP00000500186.1:p.Ala171Val | |
| ENST00000334961.11:c.267+332C>T | ENSP00000335652.7:n.267+332C>T | |
| ENST00000338641.8:c.516+332C>T | ENSP00000344666.4:n.516+332C>T | |
| ENST00000353887.8:c.267+332C>T | ENSP00000340626.4:n.267+332C>T | |
| ENST00000361166.8:c.516+332C>T | ENSP00000354529.4:n.516+332C>T | |
| ENST00000361452.8:c.393+332C>T | ENSP00000354897.4:n.393+332C>T | |
| ENST00000361676.8:c.390+332C>T | ENSP00000355183.4:n.390+332C>T | |
| ENST00000397789.3:c.516+332C>T | ENSP00000380891.3:n.516+332C>T | |
| ENST00000403435.5:c.516+332C>T | ENSP00000384029.1:n.516+332C>T | |
| ENST00000403999.7:c.516+332C>T | ENSP00000384797.3:n.516+332C>T | |
| ENST00000413209.6:c.447+12772C>T | ENSP00000409921.2:n.447+12772C>T | |
| ENST00000432151.5:c.199-6148C>T | ENSP00000395885.1:n.199-6148C>T | |
| NM_000268.3:c.516+332C>T , LRG_511t1:c.516+332C>T | NP_000259.1:n.516+332C>T | |
| NM_016418.5:c.516+332C>T , LRG_511t2:c.516+332C>T | NP_057502.2:n.516+332C>T | |
| NM_181825.2:c.516+332C>T | NP_861546.1:n.516+332C>T | |
| NM_181828.2:c.390+332C>T | NP_861966.1:n.390+332C>T | |
| NM_181829.2:c.393+332C>T | NP_861967.1:n.393+332C>T | |
| NM_181830.2:c.267+332C>T | NP_861968.1:n.267+332C>T | |
| NM_181831.2:c.267+332C>T | NP_861969.1:n.267+332C>T | |
| NM_181832.2:c.516+332C>T | NP_861970.1:n.516+332C>T | |
| NM_181833.2:c.447+12772C>T | NP_861971.1:n.447+12772C>T | |
| NR_156186.1:n.1075+332C>T | ||
| XM_017028809.2:c.402+332C>T | XP_016884298.1:n.402+332C>T | |
| XM_017028810.1:c.402+332C>T | XP_016884299.1:n.402+332C>T | |
| NM_000268.4:c.516+332C>T MANE Select | NP_000259.1:n.516+332C>T | |
| NM_181825.3:c.516+332C>T | NP_861546.1:n.516+332C>T | |
| NM_181828.3:c.390+332C>T | NP_861966.1:n.390+332C>T | |
| NM_181829.3:c.393+332C>T | NP_861967.1:n.393+332C>T | |
| NM_181830.3:c.267+332C>T | NP_861968.1:n.267+332C>T | |
| NM_181831.3:c.267+332C>T | NP_861969.1:n.267+332C>T | |
| NM_181832.3:c.516+332C>T | NP_861970.1:n.516+332C>T | |
| NR_156186.2:n.998+332C>T | ||
| NM_181833.3:c.447+12772C>T | NP_861971.1:n.447+12772C>T |