Linked Data
ClinVar Variation Id:
2902891
ClinVar RCV Id:
RCV003733988
dbSNP Id:
rs766986697
ExAC:
17:73720872 C / T
gnomAD v2:
17-73720872-C-T
gnomAD v3:
17-75724792-C-T
gnomAD v4:
17-75724792-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75724792C>T , CM000679.2:g.75724792C>T | GRCh38 |
| NC_000017.10:g.73720872C>T , CM000679.1:g.73720872C>T | GRCh37 |
| NC_000017.9:g.71232467C>T | NCBI36 |
| NG_007372.1:g.8357C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000449880.7:c.79+10C>T | ENSP00000400217.2:n.79+10C>T | |
| ENST00000200181.8:c.79+10C>T MANE Select | ENSP00000200181.3:n.79+10C>T | |
| ENST00000200181.7:c.79+10C>T | ENSP00000200181.3:n.79+10C>T | |
| ENST00000449880.6:c.79+10C>T | ENSP00000400217.2:n.79+10C>T | |
| ENST00000450894.7:c.79+10C>T | ENSP00000405536.3:n.79+10C>T | |
| ENST00000579662.5:c.79+10C>T | ENSP00000463651.1:n.79+10C>T | |
| ENST00000580542.5:n.144+10C>T | ||
| ENST00000584558.5:n.79+10C>T | ||
| NM_000213.3:c.79+10C>T | NP_000204.3:n.79+10C>T | |
| NM_001005619.1:c.79+10C>T | NP_001005619.1:n.79+10C>T | |
| NM_001005731.1:c.79+10C>T | NP_001005731.1:n.79+10C>T | |
| XM_005257309.2:c.79+10C>T | XP_005257366.1:n.79+10C>T | |
| XM_005257311.3:c.79+10C>T | XP_005257368.1:n.79+10C>T | |
| XM_005257312.2:c.79+10C>T | XP_005257369.1:n.79+10C>T | |
| XM_006721866.2:c.184+10C>T | XP_006721929.1:n.184+10C>T | |
| XM_006721867.2:c.184+10C>T | XP_006721930.1:n.184+10C>T | |
| XM_006721868.2:c.184+10C>T | XP_006721931.1:n.184+10C>T | |
| XM_006721870.2:c.184+10C>T | XP_006721933.1:n.184+10C>T | |
| XM_011524751.1:c.184+10C>T | XP_011523053.1:n.184+10C>T | |
| NM_000213.4:c.79+10C>T | NP_000204.3:n.79+10C>T | |
| NM_001005731.2:c.79+10C>T | NP_001005731.1:n.79+10C>T | |
| NM_001321123.1:c.79+10C>T | NP_001308052.1:n.79+10C>T | |
| XM_005257311.4:c.79+10C>T | XP_005257368.1:n.79+10C>T | |
| XM_006721866.3:c.184+10C>T | XP_006721929.1:n.184+10C>T | |
| XM_006721867.3:c.184+10C>T | XP_006721930.1:n.184+10C>T | |
| XM_006721868.3:c.184+10C>T | XP_006721931.1:n.184+10C>T | |
| XM_006721870.3:c.184+10C>T | XP_006721933.1:n.184+10C>T | |
| XM_011524751.2:c.184+10C>T | XP_011523053.1:n.184+10C>T | |
| NM_000213.5:c.79+10C>T MANE Select | NP_000204.3:n.79+10C>T | |
| NM_001005731.3:c.79+10C>T | NP_001005731.1:n.79+10C>T | |
| NM_001321123.2:c.79+10C>T | NP_001308052.1:n.79+10C>T |