Linked Data
ClinVar Variation Id:
316783
ClinVar RCV Id:
RCV000291161
dbSNP Id:
rs76680467
gnomAD v2:
15-65916306-C-T
gnomAD v3:
15-65623968-C-T
gnomAD v4:
15-65623968-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.65623968C>T , CM000677.2:g.65623968C>T | GRCh38 |
| NC_000015.9:g.65916306C>T , CM000677.1:g.65916306C>T | GRCh37 |
| NC_000015.8:g.63703359C>T | NCBI36 |
| NG_031968.1:g.7037C>T | |
| NG_031968.2:g.17564C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261892.11:c.-113C>T MANE Select | ENSP00000261892.6:n.-113C>T | |
| ENST00000261892.10:c.-113C>T | ENSP00000261892.6:n.-113C>T | |
| ENST00000339868.10:c.-113C>T | ENSP00000341837.7:n.-113C>T | |
| ENST00000425561.3:n.526-1849C>T | ||
| ENST00000434116.6:n.1363C>T | ||
| ENST00000535950.1:n.240C>T | ||
| ENST00000537259.5:c.-113C>T | ENSP00000439693.1:n.-113C>T | |
| ENST00000544319.6:c.-113C>T | ENSP00000445163.1:n.-113C>T | |
| NM_001301031.1:c.-113C>T | NP_001287960.1:n.-113C>T | |
| NM_001301032.1:c.-113C>T | NP_001287961.1:n.-113C>T | |
| NM_001301033.1:c.-113C>T | NP_001287962.1:n.-113C>T | |
| NM_004727.2:c.-113C>T | NP_004718.1:n.-113C>T | |
| XM_005254778.3:c.-113C>T | XP_005254835.1:n.-113C>T | |
| XM_005254781.2:c.-113C>T | XP_005254838.1:n.-113C>T | |
| XM_006720764.2:c.-113C>T | XP_006720827.1:n.-113C>T | |
| XM_006720767.2:c.-113C>T | XP_006720830.1:n.-113C>T | |
| XM_006720768.2:c.-113C>T | XP_006720831.1:n.-113C>T | |
| XM_006720769.2:c.-113C>T | XP_006720832.1:n.-113C>T | |
| XM_011522219.1:c.-113C>T | XP_011520521.1:n.-113C>T | |
| XM_011522220.1:c.-113C>T | XP_011520522.1:n.-113C>T | |
| XM_011522221.1:c.-113C>T | XP_011520523.1:n.-113C>T | |
| XM_011522222.1:c.-113C>T | XP_011520524.1:n.-113C>T | |
| XM_011522223.1:c.-113C>T | XP_011520525.1:n.-113C>T | |
| XM_011522225.1:c.-113C>T | XP_011520527.1:n.-113C>T | |
| XM_011522226.1:c.-113C>T | XP_011520528.1:n.-113C>T | |
| XM_005254778.4:c.-113C>T | XP_005254835.1:n.-113C>T | |
| XM_005254781.4:c.-113C>T | XP_005254838.1:n.-113C>T | |
| XM_006720768.4:c.-113C>T | XP_006720831.1:n.-113C>T | |
| XM_011522220.3:c.-113C>T | XP_011520522.1:n.-113C>T | |
| XM_011522221.3:c.-113C>T | XP_011520523.1:n.-113C>T | |
| XM_011522222.3:c.-113C>T | XP_011520524.1:n.-113C>T | |
| XM_011522226.3:c.-113C>T | XP_011520528.1:n.-113C>T | |
| XM_017022724.2:c.-113C>T | XP_016878213.1:n.-113C>T | |
| XM_017022725.2:c.-113C>T | XP_016878214.1:n.-113C>T | |
| XM_024450103.1:c.-113C>T | XP_024305871.1:n.-113C>T | |
| XM_024450104.1:c.-113C>T | XP_024305872.1:n.-113C>T | |
| XM_024450105.1:c.-113C>T | XP_024305873.1:n.-113C>T | |
| XM_024450106.1:c.-113C>T | XP_024305874.1:n.-113C>T | |
| NM_004727.3:c.-113C>T MANE Select | NP_004718.1:n.-113C>T | |
| NM_001301033.2:c.-113C>T | NP_001287962.1:n.-113C>T |