Linked Data
ClinVar Variation Id:
2478231
ClinVar RCV Id:
RCV003209247
dbSNP Id:
rs1451018034
gnomAD v2:
6-31918501-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31950724T>C , CM000668.2:g.31950724T>C | GRCh38 |
| NC_000006.11:g.31918501T>C , CM000668.1:g.31918501T>C | GRCh37 |
| NC_000006.10:g.32026480T>C | NCBI36 |
| NG_008191.1:g.9781T>C , LRG_136:g.9781T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452035.7:n.2122T>C | ||
| ENST00000483004.2:c.1514T>C | ENSP00000419887.2:p.Val505Ala | |
| ENST00000698628.1:c.1624+321T>C | ENSP00000513848.1:n.1624+321T>C | |
| ENST00000698629.1:n.1907T>C | ||
| ENST00000698630.1:n.2446T>C | ||
| ENST00000698631.1:n.2447T>C | ||
| ENST00000698632.1:n.3241T>C | ||
| ENST00000698633.1:n.3131T>C | ||
| ENST00000698636.1:n.1952T>C | ||
| ENST00000425368.7:c.1730T>C MANE Select | ENSP00000416561.2:p.Val577Ala | |
| ENST00000425368.6:c.1730T>C | ENSP00000416561.2:p.Val577Ala | |
| ENST00000456570.5:c.3236T>C | ENSP00000410815.1:p.Val1079Ala | |
| ENST00000467360.1:n.856T>C | ||
| ENST00000477310.1:c.2783T>C | ENSP00000418996.1:p.Val928Ala | |
| ENST00000483004.1:c.352T>C | ||
| NM_001710.5:c.1730T>C , LRG_136t1:c.1730T>C | NP_001701.2:p.Val577Ala | |
| NM_001710.6:c.1730T>C MANE Select | NP_001701.2:p.Val577Ala |