Linked Data
ClinVar Variation Id:
2935193
ClinVar RCV Id:
RCV003790847
dbSNP Id:
rs1484247994
gnomAD v2:
7-143027955-T-C
gnomAD v3:
7-143330862-T-C
gnomAD v4:
7-143330862-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143330862T>C , CM000669.2:g.143330862T>C | GRCh38 |
| NC_000007.13:g.143027955T>C , CM000669.1:g.143027955T>C | GRCh37 |
| NC_000007.12:g.142738077T>C | NCBI36 |
| NG_009815.1:g.19737T>C | |
| NG_009815.2:g.19737T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650516.2:c.944T>C | ENSP00000498052.2:p.Val315Ala | |
| ENST00000343257.7:c.944T>C MANE Select | ENSP00000339867.2:p.Val315Ala | |
| ENST00000432192.6:c.768T>C | ||
| ENST00000455478.6:c.532T>C | ENSP00000400027.2:n.532T>C | |
| ENST00000650516.1:c.944T>C | ENSP00000498052.1:p.Val315Ala | |
| ENST00000343257.6:c.944T>C | ENSP00000339867.2:p.Val315Ala | |
| ENST00000432192.5:c.458T>C | ||
| ENST00000455478.5:c.536T>C | ||
| ENST00000495612.1:n.245T>C | ||
| NM_000083.2:c.944T>C | NP_000074.2:p.Val315Ala | |
| NR_046453.1:n.1034T>C | ||
| XM_011515781.1:c.944T>C | XP_011514083.1:p.Val315Ala | |
| XM_017011739.1:c.494T>C | XP_016867228.1:p.Val165Ala | |
| XM_017011740.1:c.494T>C | XP_016867229.1:p.Val165Ala | |
| NM_000083.3:c.944T>C MANE Select | NP_000074.3:p.Val315Ala | |
| NR_046453.2:n.1049T>C |