Linked Data
ClinVar Variation Id:
2915060
ClinVar RCV Id:
RCV003598755
dbSNP Id:
rs756613907
ExAC:
12:103249124 A / G
gnomAD v2:
12-103249124-A-G
gnomAD v4:
12-102855346-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102855346A>G , CM000674.2:g.102855346A>G | GRCh38 |
| NC_000012.11:g.103249124A>G , CM000674.1:g.103249124A>G | GRCh37 |
| NC_000012.10:g.101773254A>G | NCBI36 |
| NG_008690.1:g.67257T>C | |
| NG_008690.2:g.108065T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000553106.6:c.510-14T>C MANE Select | ENSP00000448059.1:n.510-14T>C | |
| ENST00000307000.7:c.495-14T>C | ENSP00000303500.2:n.495-14T>C | |
| ENST00000549111.5:n.606-14T>C | ||
| ENST00000551988.5:n.531-14T>C | ||
| ENST00000553106.5:c.510-14T>C | ENSP00000448059.1:n.510-14T>C | |
| NM_000277.1:c.510-14T>C | NP_000268.1:n.510-14T>C | |
| XM_011538422.1:c.510-14T>C | XP_011536724.1:n.510-14T>C | |
| NM_000277.2:c.510-14T>C | NP_000268.1:n.510-14T>C | |
| NM_001354304.1:c.510-14T>C | NP_001341233.1:n.510-14T>C | |
| XM_017019370.2:c.510-14T>C | XP_016874859.1:n.510-14T>C | |
| NM_000277.3:c.510-14T>C MANE Select | NP_000268.1:n.510-14T>C | |
| NM_001354304.2:c.510-14T>C | NP_001341233.1:n.510-14T>C |