Linked Data
ClinVar Variation Id:
282739
dbSNP Id:
rs190427962
ExAC:
5:89924551 G / C
gnomAD v2:
5-89924551-G-C
gnomAD v3:
5-90628734-G-C
gnomAD v4:
5-90628734-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90628734G>C , CM000667.2:g.90628734G>C | GRCh38 |
| NC_000005.9:g.89924551G>C , CM000667.1:g.89924551G>C | GRCh37 |
| NC_000005.8:g.89960307G>C | NCBI36 |
| NG_007083.1:g.74935G>C | |
| NG_007083.2:g.104391G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.1411G>C MANE Select | ENSP00000384582.2:p.Val471Leu | |
| ENST00000504142.2:n.177G>C | ||
| ENST00000640083.1:n.1116G>C | ||
| ENST00000640109.1:n.1507G>C | ||
| ENST00000405460.6:c.1411G>C | ENSP00000384582.2:p.Val471Leu | |
| ENST00000504142.1:c.176G>C | ||
| NM_032119.3:c.1411G>C | NP_115495.3:p.Val471Leu | |
| NR_003149.1:n.1507G>C | ||
| XM_011543675.1:c.1411G>C | XP_011541977.1:p.Val471Leu | |
| XM_011543676.1:c.1411G>C | XP_011541978.1:p.Val471Leu | |
| XM_011543678.1:c.1411G>C | XP_011541980.1:p.Val471Leu | |
| XM_011543679.1:c.1411G>C | XP_011541981.1:p.Val471Leu | |
| NM_032119.4:c.1411G>C MANE Select | NP_115495.3:p.Val471Leu | |
| XM_017009963.2:c.1411G>C | XP_016865452.1:p.Val471Leu | |
| XM_017009964.2:c.1411G>C | XP_016865453.1:p.Val471Leu | |
| XM_017009965.1:c.1408G>C | XP_016865454.1:p.Val470Leu | |
| XM_017009966.2:c.1411G>C | XP_016865455.1:p.Val471Leu | |
| XM_017009967.1:c.1315G>C | XP_016865456.1:p.Val439Leu | |
| XM_017009968.2:c.1411G>C | XP_016865457.1:p.Val471Leu | |
| XM_017009969.2:c.1411G>C | XP_016865458.1:p.Val471Leu | |
| XM_017009970.2:c.1411G>C | XP_016865459.1:p.Val471Leu | |
| XM_017009971.2:c.1411G>C | XP_016865460.1:p.Val471Leu | |
| XM_017009974.2:c.1411G>C | XP_016865463.1:p.Val471Leu | |
| NR_003149.2:n.1510G>C |