Linked Data
dbSNP Id:
rs12054797
gnomAD v2:
5-142805902-C-A
gnomAD v3:
5-143426337-C-A
gnomAD v4:
5-143426337-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.143426337C>A , CM000667.2:g.143426337C>A | GRCh38 |
| NC_000005.9:g.142805902C>A , CM000667.1:g.142805902C>A | GRCh37 |
| NC_000005.8:g.142786095C>A | NCBI36 |
| NG_009062.1:g.14176G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000343796.6:c.-14+8195G>T | ENSP00000343205.2:n.-14+8195G>T | |
| ENST00000503701.1:n.352+7382G>T | ||
| ENST00000504572.5:c.-14+7382G>T | ENSP00000422518.1:n.-14+7382G>T | |
| ENST00000505058.5:n.241+8195G>T | ||
| NM_001018074.1:c.-14+8867G>T | NP_001018084.1:n.-14+8867G>T | |
| NM_001018075.1:c.-14+8964G>T | NP_001018085.1:n.-14+8964G>T | |
| NM_001018077.1:c.-14+8195G>T | NP_001018087.1:n.-14+8195G>T | |
| XM_005268422.2:c.-14+8195G>T | XP_005268479.1:n.-14+8195G>T | |
| XM_005268422.3:c.-14+8195G>T | XP_005268479.1:n.-14+8195G>T | |
| NM_001364183.1:c.-14+7382G>T | NP_001351112.1:n.-14+7382G>T | |
| NM_001364183.2:c.-14+7382G>T | NP_001351112.1:n.-14+7382G>T |