Linked Data
ClinVar Variation Id:
1077339
ClinVar RCV Id:
RCV001391911
dbSNP Id:
rs369786199
ExAC:
12:13768163 G / A
gnomAD v2:
12-13768163-G-A
gnomAD v4:
12-13615229-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.13615229G>A , CM000674.2:g.13615229G>A | GRCh38 |
| NC_000012.11:g.13768163G>A , CM000674.1:g.13768163G>A | GRCh37 |
| NC_000012.10:g.13659430G>A | NCBI36 |
| NG_031854.1:g.369860C>T | |
| NG_031854.2:g.371784C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000609686.4:c.1539C>T MANE Select | ENSP00000477455.1:p.Leu513= | |
| ENST00000609686.3:c.1539C>T | ENSP00000477455.1:p.Leu513= | |
| NM_000834.3:c.1539C>T | NP_000825.2:p.Leu513= | |
| XM_011520628.1:c.1539C>T | XP_011518930.1:p.Leu513= | |
| XM_011520629.1:c.1539C>T | XP_011518931.1:p.Leu513= | |
| XM_011520630.1:c.1539C>T | XP_011518932.1:p.Leu513= | |
| XR_931372.1:n.307+3G>A | ||
| XR_931373.1:n.447+3G>A | ||
| XR_931374.1:n.246+3G>A | ||
| NM_000834.4:c.1539C>T | NP_000825.2:p.Leu513= | |
| XM_011520628.2:c.1539C>T | XP_011518930.1:p.Leu513= | |
| XM_011520629.2:c.1539C>T | XP_011518931.1:p.Leu513= | |
| XM_017019219.2:c.1539C>T | XP_016874708.1:p.Leu513= | |
| XR_001749013.1:n.728+3G>A | ||
| XR_931372.2:n.444+3G>A | ||
| XR_931373.2:n.586+3G>A | ||
| NM_000834.5:c.1539C>T MANE Select | NP_000825.2:p.Leu513= |