Linked Data
ClinVar Variation Id:
359499
ClinVar RCV Id:
RCV000403144
dbSNP Id:
rs190481410
gnomAD v2:
7-16128129-G-T
gnomAD v3:
7-16088504-G-T
gnomAD v4:
7-16088504-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.16088504G>T , CM000669.2:g.16088504G>T | GRCh38 |
| NC_000007.13:g.16128129G>T , CM000669.1:g.16128129G>T | GRCh37 |
| NC_000007.12:g.16094654G>T | NCBI36 |
| NG_032690.1:g.337819C>A | |
| NG_032690.2:g.337819C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000407010.7:c.*3191C>A MANE Select | ENSP00000385478.2:n.*3191C>A | |
| ENST00000407010.6:c.4547C>A | ENSP00000385478.2:n.4547C>A | |
| NM_001101417.3:c.4397C>A | NP_001094887.1:n.4397C>A | |
| NM_001101426.3:c.4547C>A | NP_001094896.1:n.4547C>A | |
| XM_011515498.1:c.1251+127562C>A | XP_011513800.1:n.1251+127562C>A | |
| NM_001101426.4:c.*3191C>A MANE Select | NP_001094896.1:n.*3191C>A | |
| NM_001101417.4:c.*3191C>A | NP_001094887.1:n.*3191C>A | |
| NM_001368197.1:c.*3191C>A | NP_001355126.1:n.*3191C>A | |
| NR_160656.1:n.4612C>A |