Linked Data
dbSNP Id:
rs1448852274
gnomAD v2:
8-87682983-C-T
gnomAD v3:
8-86670755-C-T
gnomAD v4:
8-86670755-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86670755C>T , CM000670.2:g.86670755C>T | GRCh38 |
| NC_000008.10:g.87682983C>T , CM000670.1:g.87682983C>T | GRCh37 |
| NC_000008.9:g.87752099C>T | NCBI36 |
| NG_016980.1:g.77921G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.493+189G>A MANE Select | ENSP00000316605.5:n.493+189G>A | |
| ENST00000680314.1:n.254+189G>A | ||
| ENST00000681746.1:c.493+189G>A | ENSP00000505959.1:n.493+189G>A | |
| ENST00000320005.5:c.493+189G>A | ENSP00000316605.5:n.493+189G>A | |
| NM_019098.4:c.493+189G>A | NP_061971.3:n.493+189G>A | |
| XM_011517138.1:c.79+189G>A | XP_011515440.1:n.79+189G>A | |
| XM_011517138.2:c.79+189G>A | XP_011515440.1:n.79+189G>A | |
| NM_019098.5:c.493+189G>A MANE Select | NP_061971.3:n.493+189G>A |