Linked Data
ClinVar Variation Id:
9436
ClinVar RCV Id:
RCV000010043
dbSNP Id:
rs137852622
PubMed:
PMID:8069911
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50168512T>C , CM000679.2:g.50168512T>C | GRCh38 |
| NC_000017.10:g.48245873T>C , CM000679.1:g.48245873T>C | GRCh37 |
| NC_000017.9:g.45600872T>C | NCBI36 |
| NG_008889.1:g.7508T>C , LRG_203:g.7508T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504073.2:c.524T>C | ENSP00000422030.2:p.Val175Ala | |
| ENST00000511303.6:n.249T>C | ||
| ENST00000512526.2:c.515T>C | ENSP00000426606.2:n.515T>C | |
| ENST00000682109.1:c.404T>C | ENSP00000508041.1:p.Val135Ala | |
| ENST00000683226.1:n.234T>C | ||
| ENST00000683294.1:c.524T>C | ENSP00000508134.1:p.Val175Ala | |
| ENST00000262018.8:c.524T>C MANE Select | ENSP00000262018.3:p.Val175Ala | |
| ENST00000262018.7:c.524T>C | ENSP00000262018.3:p.Val175Ala | |
| ENST00000344627.10:c.524T>C | ENSP00000345522.6:p.Val175Ala | |
| ENST00000502555.5:c.*183T>C | ENSP00000422817.1:n.*183T>C | |
| ENST00000511303.5:c.245T>C | ENSP00000426104.1:p.Val82Ala | |
| ENST00000512526.1:c.359T>C | ||
| ENST00000513821.5:c.524T>C | ENSP00000426571.1:p.Val175Ala | |
| ENST00000513942.5:n.315T>C | ||
| ENST00000514934.1:c.*230T>C | ENSP00000423168.1:n.*230T>C | |
| NM_000023.2:c.524T>C , LRG_203t1:c.524T>C | NP_000014.1:p.Val175Ala | |
| NM_001135697.1:c.524T>C | NP_001129169.1:p.Val175Ala | |
| XM_011525120.1:c.524T>C | XP_011523422.1:p.Val175Ala | |
| XM_011525121.1:c.524T>C | XP_011523423.1:p.Val175Ala | |
| XM_011525122.1:c.524T>C | XP_011523424.1:p.Val175Ala | |
| XM_011525123.1:c.524T>C | XP_011523425.1:p.Val175Ala | |
| XM_011525124.1:c.218T>C | XP_011523426.1:p.Val73Ala | |
| XR_934517.1:n.590T>C | ||
| NM_000023.3:c.524T>C | NP_000014.1:p.Val175Ala | |
| NM_001135697.2:c.524T>C | NP_001129169.1:p.Val175Ala | |
| NR_135553.1:n.580T>C | ||
| XM_011525120.2:c.686T>C | XP_011523422.2:p.Val229Ala | |
| XM_011525121.2:c.686T>C | XP_011523423.2:p.Val229Ala | |
| XM_011525122.2:c.686T>C | XP_011523424.2:p.Val229Ala | |
| XM_011525123.2:c.686T>C | XP_011523425.2:p.Val229Ala | |
| XM_011525124.2:c.218T>C | XP_011523426.1:p.Val73Ala | |
| XM_024450873.1:c.218T>C | XP_024306641.1:p.Val73Ala | |
| XR_002958056.1:n.1042T>C | ||
| NM_000023.4:c.524T>C MANE Select | NP_000014.1:p.Val175Ala | |
| NM_001135697.3:c.524T>C | NP_001129169.1:p.Val175Ala | |
| NR_135553.2:n.560T>C |