Linked Data
ClinVar Variation Id:
348237
ClinVar RCV Id:
RCV000315146
dbSNP Id:
rs886059263
gnomAD v2:
4-178363438-A-G
gnomAD v4:
4-177442284-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.177442284A>G , CM000666.2:g.177442284A>G | GRCh38 |
| NC_000004.11:g.178363438A>G , CM000666.1:g.178363438A>G | GRCh37 |
| NC_000004.10:g.178600432A>G | NCBI36 |
| NG_011845.2:g.5220T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264595.7:c.92T>C MANE Select | ENSP00000264595.2:p.Val31Ala | |
| ENST00000264595.6:c.92T>C | ENSP00000264595.2:p.Val31Ala | |
| ENST00000506853.5:n.126T>C | ||
| ENST00000510955.5:n.126T>C | ||
| ENST00000511231.1:n.126T>C | ||
| NM_000027.3:c.92T>C | NP_000018.2:p.Val31Ala | |
| NM_001171988.1:c.92T>C | NP_001165459.1:p.Val31Ala | |
| NR_033655.1:n.220T>C | ||
| XM_006714123.2:c.92T>C | XP_006714186.1:p.Val31Ala | |
| XR_001741155.2:n.186T>C | ||
| NM_000027.4:c.92T>C MANE Select | NP_000018.2:p.Val31Ala | |
| NM_001171988.2:c.92T>C | NP_001165459.1:p.Val31Ala | |
| NR_033655.2:n.154T>C |