Linked Data
ClinVar Variation Id:
342129
dbSNP Id:
rs886057631
gnomAD v3:
22-50525509-G-A
gnomAD v4:
22-50525509-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50525509G>A , CM000684.2:g.50525509G>A | GRCh38 |
| NC_000022.10:g.50963938G>A , CM000684.1:g.50963938G>A | GRCh37 |
| NC_000022.9:g.49310804G>A | NCBI36 |
| NG_011860.1:g.9577C>T , LRG_727:g.9577C>T | |
| NG_016235.1:g.5931C>T | |
| NG_021419.1:g.22294G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395693.8:c.-51C>T MANE Select | ENSP00000379046.4:n.-51C>T | |
| ENST00000543927.6:c.-14+737C>T | ENSP00000444433.1:n.-14+737C>T | |
| ENST00000638598.2:c.-14+492C>T | ENSP00000491753.2:n.-14+492C>T | |
| ENST00000252785.3:c.-81C>T | ENSP00000252785.3:n.-81C>T | |
| ENST00000395693.7:c.-51C>T | ENSP00000379046.3:n.-51C>T | |
| ENST00000423348.1:c.-14+737C>T | ENSP00000403570.1:n.-14+737C>T | |
| ENST00000439934.5:c.-14+492C>T | ENSP00000415642.1:n.-14+492C>T | |
| ENST00000535425.5:c.-14+492C>T | ENSP00000444242.1:n.-14+492C>T | |
| ENST00000543927.5:c.-14+737C>T | ENSP00000444433.1:n.-14+737C>T | |
| NM_001169109.1:c.-14+737C>T | NP_001162580.1:n.-14+737C>T | |
| NM_001169110.1:c.-14+492C>T | NP_001162581.1:n.-14+492C>T | |
| NM_001169111.1:c.-81C>T | NP_001162582.1:n.-81C>T | |
| NM_005138.2:c.-51C>T | NP_005129.2:n.-51C>T | |
| NM_005138.3:c.-51C>T MANE Select | NP_005129.2:n.-51C>T | |
| NM_001169109.2:c.-14+737C>T | NP_001162580.1:n.-14+737C>T | |
| NM_001169111.2:c.-81C>T | NP_001162582.1:n.-81C>T |