Linked Data
ClinVar Variation Id:
197094
dbSNP Id:
rs186669379
ExAC:
17:48245315 C / T
gnomAD v2:
17-48245315-C-T
gnomAD v3:
17-50167954-C-T
gnomAD v4:
17-50167954-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50167954C>T , CM000679.2:g.50167954C>T | GRCh38 |
| NC_000017.10:g.48245315C>T , CM000679.1:g.48245315C>T | GRCh37 |
| NC_000017.9:g.45600314C>T | NCBI36 |
| NG_008889.1:g.6950C>T , LRG_203:g.6950C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504073.2:c.320C>T | ENSP00000422030.2:p.Ala107Val | |
| ENST00000511303.6:n.45C>T | ||
| ENST00000512526.2:c.311C>T | ENSP00000426606.2:p.Ala104Val | |
| ENST00000682109.1:c.200C>T | ENSP00000508041.1:p.Ala67Val | |
| ENST00000683226.1:n.30C>T | ||
| ENST00000683294.1:c.320C>T | ENSP00000508134.1:p.Ala107Val | |
| ENST00000262018.8:c.320C>T MANE Select | ENSP00000262018.3:p.Ala107Val | |
| ENST00000262018.7:c.320C>T | ENSP00000262018.3:p.Ala107Val | |
| ENST00000344627.10:c.320C>T | ENSP00000345522.6:p.Ala107Val | |
| ENST00000502555.5:c.165C>T | ENSP00000422817.1:p.Ser55= | |
| ENST00000511303.5:c.41C>T | ENSP00000426104.1:p.Ala14Val | |
| ENST00000512526.1:c.155C>T | ||
| ENST00000513821.5:c.320C>T | ENSP00000426571.1:p.Ala107Val | |
| ENST00000513942.5:n.111C>T | ||
| ENST00000514934.1:c.*26C>T | ENSP00000423168.1:n.*26C>T | |
| NM_000023.2:c.320C>T , LRG_203t1:c.320C>T | NP_000014.1:p.Ala107Val | |
| NM_001135697.1:c.320C>T | NP_001129169.1:p.Ala107Val | |
| XM_011525120.1:c.320C>T | XP_011523422.1:p.Ala107Val | |
| XM_011525121.1:c.320C>T | XP_011523423.1:p.Ala107Val | |
| XM_011525122.1:c.320C>T | XP_011523424.1:p.Ala107Val | |
| XM_011525123.1:c.320C>T | XP_011523425.1:p.Ala107Val | |
| XM_011525124.1:c.14C>T | XP_011523426.1:p.Ala5Val | |
| XR_934517.1:n.386C>T | ||
| NM_000023.3:c.320C>T | NP_000014.1:p.Ala107Val | |
| NM_001135697.2:c.320C>T | NP_001129169.1:p.Ala107Val | |
| NR_135553.1:n.376C>T | ||
| XM_011525120.2:c.482C>T | XP_011523422.2:p.Ala161Val | |
| XM_011525121.2:c.482C>T | XP_011523423.2:p.Ala161Val | |
| XM_011525122.2:c.482C>T | XP_011523424.2:p.Ala161Val | |
| XM_011525123.2:c.482C>T | XP_011523425.2:p.Ala161Val | |
| XM_011525124.2:c.14C>T | XP_011523426.1:p.Ala5Val | |
| XM_024450873.1:c.14C>T | XP_024306641.1:p.Ala5Val | |
| XR_002958056.1:n.838C>T | ||
| NM_000023.4:c.320C>T MANE Select | NP_000014.1:p.Ala107Val | |
| NM_001135697.3:c.320C>T | NP_001129169.1:p.Ala107Val | |
| NR_135553.2:n.356C>T |