Linked Data
dbSNP Id:
rs1009416239
gnomAD v2:
12-125034088-G-A
gnomAD v3:
12-124549542-G-A
gnomAD v4:
12-124549542-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.124549542G>A , CM000674.2:g.124549542G>A | GRCh38 |
| NC_000012.11:g.125034088G>A , CM000674.1:g.125034088G>A | GRCh37 |
| NC_000012.10:g.123600041G>A | NCBI36 |
| NG_022928.2:g.22923C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405201.6:c.-164-13931C>T MANE Select | ENSP00000384018.1:n.-164-13931C>T | |
| ENST00000458234.5:c.-164-13931C>T | ENSP00000402808.1:n.-164-13931C>T | |
| ENST00000542565.1:n.283-13931C>T | ||
| NM_001077261.3:c.-164-13931C>T | NP_001070729.2:n.-164-13931C>T | |
| NM_001206654.1:c.-164-13931C>T | NP_001193583.1:n.-164-13931C>T | |
| NM_006312.5:c.-164-13931C>T | NP_006303.4:n.-164-13931C>T | |
| NM_001077261.4:c.-164-13931C>T | NP_001070729.2:n.-164-13931C>T | |
| NM_001206654.2:c.-164-13931C>T | NP_001193583.1:n.-164-13931C>T | |
| NM_006312.6:c.-164-13931C>T MANE Select | NP_006303.4:n.-164-13931C>T |