Linked Data
dbSNP Id:
rs747741939
ExAC:
19:12998006 C / T
gnomAD v2:
19-12998006-C-T
gnomAD v3:
19-12887192-C-T
gnomAD v4:
19-12887192-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12887192C>T , CM000681.2:g.12887192C>T | GRCh38 |
| NC_000019.9:g.12998006C>T , CM000681.1:g.12998006C>T | GRCh37 |
| NC_000019.8:g.12859006C>T | NCBI36 |
| NG_009292.1:g.1033C>T | |
| NG_013087.1:g.5012G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264834.6:c.-52G>A MANE Select | ENSP00000264834.3:n.-52G>A | |
| NM_006563.3:c.-52G>A | NP_006554.1:n.-52G>A | |
| NM_006563.4:c.-52G>A | NP_006554.1:n.-52G>A | |
| NM_006563.5:c.-52G>A MANE Select | NP_006554.1:n.-52G>A |