Linked Data
ClinVar Variation Id:
139081
dbSNP Id:
rs74479613
gnomAD v2:
22-50963905-C-T
gnomAD v3:
22-50525476-C-T
gnomAD v4:
22-50525476-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50525476C>T , CM000684.2:g.50525476C>T | GRCh38 |
| NC_000022.10:g.50963905C>T , CM000684.1:g.50963905C>T | GRCh37 |
| NC_000022.9:g.49310771C>T | NCBI36 |
| NG_011860.1:g.9610G>A , LRG_727:g.9610G>A | |
| NG_016235.1:g.5964G>A | |
| NG_021419.1:g.22261C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395693.8:c.-18G>A MANE Select | ENSP00000379046.4:n.-18G>A | |
| ENST00000543927.6:c.-14+770G>A | ENSP00000444433.1:n.-14+770G>A | |
| ENST00000638598.2:c.-14+525G>A | ENSP00000491753.2:n.-14+525G>A | |
| ENST00000252785.3:c.-48G>A | ENSP00000252785.3:n.-48G>A | |
| ENST00000395693.7:c.-18G>A | ENSP00000379046.3:n.-18G>A | |
| ENST00000423348.1:c.-14+770G>A | ENSP00000403570.1:n.-14+770G>A | |
| ENST00000439934.5:c.-14+525G>A | ENSP00000415642.1:n.-14+525G>A | |
| ENST00000535425.5:c.-14+525G>A | ENSP00000444242.1:n.-14+525G>A | |
| ENST00000543927.5:c.-14+770G>A | ENSP00000444433.1:n.-14+770G>A | |
| NM_001169109.1:c.-14+770G>A | NP_001162580.1:n.-14+770G>A | |
| NM_001169110.1:c.-14+525G>A | NP_001162581.1:n.-14+525G>A | |
| NM_001169111.1:c.-48G>A | NP_001162582.1:n.-48G>A | |
| NM_005138.2:c.-18G>A | NP_005129.2:n.-18G>A | |
| NM_005138.3:c.-18G>A MANE Select | NP_005129.2:n.-18G>A | |
| NM_001169109.2:c.-14+770G>A | NP_001162580.1:n.-14+770G>A | |
| NM_001169111.2:c.-48G>A | NP_001162582.1:n.-48G>A |