Linked Data
ClinVar Variation Id:
98439
ClinVar RCV Id:
RCV000084730
dbSNP Id:
rs367543148
ExAC:
12:13761714 A / G
gnomAD v2:
12-13761714-A-G
gnomAD v4:
12-13608780-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.13608780A>G , CM000674.2:g.13608780A>G | GRCh38 |
| NC_000012.11:g.13761714A>G , CM000674.1:g.13761714A>G | GRCh37 |
| NC_000012.10:g.13652981A>G | NCBI36 |
| NG_031854.1:g.376309T>C | |
| NG_031854.2:g.378233T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000609686.4:c.1833T>C MANE Select | ENSP00000477455.1:p.Gly611= | |
| ENST00000628166.2:n.93T>C | ||
| ENST00000609686.3:c.1833T>C | ENSP00000477455.1:p.Gly611= | |
| ENST00000628166.1:n.93T>C | ||
| NM_000834.3:c.1833T>C | NP_000825.2:p.Gly611= | |
| XM_011520628.1:c.1833T>C | XP_011518930.1:p.Gly611= | |
| XM_011520629.1:c.1833T>C | XP_011518931.1:p.Gly611= | |
| XM_011520630.1:c.1833T>C | XP_011518932.1:p.Gly611= | |
| XR_931372.1:n.179-6318A>G | ||
| XR_931373.1:n.318+23A>G | ||
| NM_000834.4:c.1833T>C | NP_000825.2:p.Gly611= | |
| XM_011520628.2:c.1833T>C | XP_011518930.1:p.Gly611= | |
| XM_011520629.2:c.1833T>C | XP_011518931.1:p.Gly611= | |
| XM_017019219.2:c.1833T>C | XP_016874708.1:p.Gly611= | |
| XR_001749013.1:n.457+23A>G | ||
| XR_931372.2:n.316-6318A>G | ||
| XR_931373.2:n.457+23A>G | ||
| NM_000834.5:c.1833T>C MANE Select | NP_000825.2:p.Gly611= |