Linked Data
dbSNP Id:
rs12214600
gnomAD v2:
6-39268736-C-T
gnomAD v3:
6-39300960-C-T
gnomAD v4:
6-39300960-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.39300960C>T , CM000668.2:g.39300960C>T | GRCh38 |
| NC_000006.11:g.39268736C>T , CM000668.1:g.39268736C>T | GRCh37 |
| NC_000006.10:g.39376714C>T | NCBI36 |
| NG_047208.1:g.18502G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000373231.9:c.689-1223G>A MANE Select | ENSP00000362328.4:n.689-1223G>A | |
| ENST00000373231.8:c.689-1223G>A | ENSP00000362328.4:n.689-1223G>A | |
| ENST00000453413.2:c.689-437G>A | ENSP00000401271.2:n.689-437G>A | |
| NM_001135111.1:c.689-437G>A | NP_001128583.1:n.689-437G>A | |
| NM_031460.3:c.689-1223G>A | NP_113648.2:n.689-1223G>A | |
| XM_006715239.2:c.689-455G>A | XP_006715302.1:n.689-455G>A | |
| XM_011514973.1:c.398-1223G>A | XP_011513275.1:n.398-1223G>A | |
| NM_031460.4:c.689-1223G>A MANE Select | NP_113648.2:n.689-1223G>A | |
| NM_001135111.2:c.689-437G>A | NP_001128583.1:n.689-437G>A |