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