Linked Data
dbSNP Id:
rs12708369
gnomAD v2:
12-124875577-C-T
gnomAD v3:
12-124391031-C-T
gnomAD v4:
12-124391031-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.124391031C>T , CM000674.2:g.124391031C>T | GRCh38 |
| NC_000012.11:g.124875577C>T , CM000674.1:g.124875577C>T | GRCh37 |
| NC_000012.10:g.123441530C>T | NCBI36 |
| NG_022928.2:g.181434G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000405201.6:c.1877-5144G>A MANE Select | ENSP00000384018.1:n.1877-5144G>A | |
| ENST00000356219.7:c.548-5144G>A | ENSP00000348551.4:n.548-5144G>A | |
| ENST00000404121.6:c.548-5144G>A | ENSP00000385618.3:n.548-5144G>A | |
| ENST00000404621.5:c.1874-5144G>A | ENSP00000384202.1:n.1874-5144G>A | |
| ENST00000405201.5:c.1877-5144G>A | ENSP00000384018.1:n.1877-5144G>A | |
| ENST00000429285.6:c.1874-5144G>A | ENSP00000400281.2:n.1874-5144G>A | |
| ENST00000458234.5:c.1877-5144G>A | ENSP00000402808.1:n.1877-5144G>A | |
| NM_001077261.3:c.1874-5144G>A | NP_001070729.2:n.1874-5144G>A | |
| NM_001206654.1:c.1874-5144G>A | NP_001193583.1:n.1874-5144G>A | |
| NM_006312.5:c.1877-5144G>A | NP_006303.4:n.1877-5144G>A | |
| NM_001077261.4:c.1874-5144G>A | NP_001070729.2:n.1874-5144G>A | |
| NM_001206654.2:c.1874-5144G>A | NP_001193583.1:n.1874-5144G>A | |
| NM_006312.6:c.1877-5144G>A MANE Select | NP_006303.4:n.1877-5144G>A |