Linked Data
dbSNP Id:
rs16887812
gnomAD v2:
6-56210764-C-T
gnomAD v3:
6-56345966-C-T
gnomAD v4:
6-56345966-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.56345966C>T , CM000668.2:g.56345966C>T | GRCh38 |
| NC_000006.11:g.56210764C>T , CM000668.1:g.56210764C>T | GRCh37 |
| NC_000006.10:g.56318723C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370819.5:c.-39+48005G>A | ENSP00000359855.1:n.-39+48005G>A | |
| XM_011514924.1:c.-39+48005G>A | XP_011513226.1:n.-39+48005G>A | |
| NM_001318752.1:c.-39+48005G>A | NP_001305681.1:n.-39+48005G>A | |
| XM_011514924.2:c.-39+48005G>A | XP_011513226.1:n.-39+48005G>A | |
| NM_001318752.2:c.-39+48005G>A | NP_001305681.1:n.-39+48005G>A |