Linked Data
ClinVar Variation Id:
2148037
ClinVar RCV Id:
RCV003068651
dbSNP Id:
rs1472338684
gnomAD v2:
17-48245872-G-A
gnomAD v4:
17-50168511-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50168511G>A , CM000679.2:g.50168511G>A | GRCh38 |
| NC_000017.10:g.48245872G>A , CM000679.1:g.48245872G>A | GRCh37 |
| NC_000017.9:g.45600871G>A | NCBI36 |
| NG_008889.1:g.7507G>A , LRG_203:g.7507G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504073.2:c.523G>A | ENSP00000422030.2:p.Val175Ile | |
| ENST00000511303.6:n.248G>A | ||
| ENST00000512526.2:c.514G>A | ENSP00000426606.2:n.514G>A | |
| ENST00000682109.1:c.403G>A | ENSP00000508041.1:p.Val135Ile | |
| ENST00000683226.1:n.233G>A | ||
| ENST00000683294.1:c.523G>A | ENSP00000508134.1:p.Val175Ile | |
| ENST00000262018.8:c.523G>A MANE Select | ENSP00000262018.3:p.Val175Ile | |
| ENST00000262018.7:c.523G>A | ENSP00000262018.3:p.Val175Ile | |
| ENST00000344627.10:c.523G>A | ENSP00000345522.6:p.Val175Ile | |
| ENST00000502555.5:c.*182G>A | ENSP00000422817.1:n.*182G>A | |
| ENST00000511303.5:c.244G>A | ENSP00000426104.1:p.Val82Ile | |
| ENST00000512526.1:c.358G>A | ||
| ENST00000513821.5:c.523G>A | ENSP00000426571.1:p.Val175Ile | |
| ENST00000513942.5:n.314G>A | ||
| ENST00000514934.1:c.*229G>A | ENSP00000423168.1:n.*229G>A | |
| NM_000023.2:c.523G>A , LRG_203t1:c.523G>A | NP_000014.1:p.Val175Ile | |
| NM_001135697.1:c.523G>A | NP_001129169.1:p.Val175Ile | |
| XM_011525120.1:c.523G>A | XP_011523422.1:p.Val175Ile | |
| XM_011525121.1:c.523G>A | XP_011523423.1:p.Val175Ile | |
| XM_011525122.1:c.523G>A | XP_011523424.1:p.Val175Ile | |
| XM_011525123.1:c.523G>A | XP_011523425.1:p.Val175Ile | |
| XM_011525124.1:c.217G>A | XP_011523426.1:p.Val73Ile | |
| XR_934517.1:n.589G>A | ||
| NM_000023.3:c.523G>A | NP_000014.1:p.Val175Ile | |
| NM_001135697.2:c.523G>A | NP_001129169.1:p.Val175Ile | |
| NR_135553.1:n.579G>A | ||
| XM_011525120.2:c.685G>A | XP_011523422.2:p.Val229Ile | |
| XM_011525121.2:c.685G>A | XP_011523423.2:p.Val229Ile | |
| XM_011525122.2:c.685G>A | XP_011523424.2:p.Val229Ile | |
| XM_011525123.2:c.685G>A | XP_011523425.2:p.Val229Ile | |
| XM_011525124.2:c.217G>A | XP_011523426.1:p.Val73Ile | |
| XM_024450873.1:c.217G>A | XP_024306641.1:p.Val73Ile | |
| XR_002958056.1:n.1041G>A | ||
| NM_000023.4:c.523G>A MANE Select | NP_000014.1:p.Val175Ile | |
| NM_001135697.3:c.523G>A | NP_001129169.1:p.Val175Ile | |
| NR_135553.2:n.559G>A |