Linked Data
dbSNP Id:
rs752355618
ExAC:
5:7520882 T / C
gnomAD v2:
5-7520882-T-C
gnomAD v3:
5-7520769-T-C
gnomAD v4:
5-7520769-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.7520769T>C , CM000667.2:g.7520769T>C | GRCh38 |
| NC_000005.9:g.7520882T>C , CM000667.1:g.7520882T>C | GRCh37 |
| NC_000005.8:g.7573882T>C | NCBI36 |
| NG_046913.1:g.129540T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338316.9:c.440T>C MANE Select | ENSP00000342952.4:p.Val147Ala | |
| ENST00000338316.8:c.440T>C | ENSP00000342952.4:p.Val147Ala | |
| ENST00000484965.5:n.174T>C | ||
| ENST00000498598.1:n.139T>C | ||
| ENST00000537121.5:c.440T>C | ENSP00000444803.2:p.Val147Ala | |
| NM_020546.2:c.440T>C | NP_065433.2:p.Val147Ala | |
| XM_011513942.1:c.440T>C | XP_011512244.1:p.Val147Ala | |
| XR_427657.2:n.454T>C | ||
| XM_011513942.2:c.440T>C | XP_011512244.1:p.Val147Ala | |
| XR_001741973.1:n.454T>C | ||
| XR_001741974.2:n.454T>C | ||
| NM_020546.3:c.440T>C MANE Select | NP_065433.2:p.Val147Ala |