Linked Data
dbSNP Id:
rs766583077
ExAC:
6:32810706 C / T
gnomAD v2:
6-32810706-C-T
gnomAD v4:
6-32842929-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32842929C>T , CM000668.2:g.32842929C>T | GRCh38 |
| NC_000006.11:g.32810706C>T , CM000668.1:g.32810706C>T | GRCh37 |
| NC_000006.10:g.32918684C>T | NCBI36 |
| NG_009793.3:g.842G>A | |
| NG_028165.1:g.7007G>A | |
| NG_009793.4:g.842G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650793.2:n.329G>A | ||
| ENST00000697612.1:n.1007G>A | ||
| ENST00000374881.3:c.283+13G>A | ENSP00000364015.2:n.283+13G>A | |
| ENST00000374882.8:c.295+13G>A MANE Select | ENSP00000364016.4:n.295+13G>A | |
| ENST00000650411.1:n.1616+13G>A | ||
| ENST00000650793.1:n.329G>A | ||
| ENST00000374881.2:c.283+13G>A | ENSP00000364015.2:n.283+13G>A | |
| ENST00000374882.7:c.295+13G>A | ENSP00000364016.3:n.295+13G>A | |
| ENST00000395339.7:c.295+13G>A | ENSP00000378748.3:n.295+13G>A | |
| ENST00000484003.1:n.534G>A | ||
| NM_004159.4:c.283+13G>A | NP_004150.1:n.283+13G>A | |
| NM_148919.3:c.295+13G>A | NP_683720.2:n.295+13G>A | |
| NM_148919.4:c.295+13G>A MANE Select | NP_683720.2:n.295+13G>A | |
| NM_004159.5:c.283+13G>A | NP_004150.1:n.283+13G>A |