Linked Data
ClinVar Variation Id:
7997
ClinVar RCV Id:
RCV000008461
dbSNP Id:
rs104894383
gnomAD v2:
12-114841559-G-T
gnomAD v3:
12-114403754-G-T
gnomAD v4:
12-114403754-G-T
PubMed:
PMID:10842287
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.114403754G>T , CM000674.2:g.114403754G>T | GRCh38 |
| NC_000012.11:g.114841559G>T , CM000674.1:g.114841559G>T | GRCh37 |
| NC_000012.10:g.113325942G>T | NCBI36 |
| NG_007373.1:g.9689C>A , LRG_670:g.9689C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000405440.7:c.145C>A MANE Select | ENSP00000384152.3:p.Gln49Lys | |
| ENST00000310346.8:c.145C>A | ENSP00000309913.4:p.Gln49Lys | |
| ENST00000349716.9:c.-3-1834C>A | ENSP00000337723.5:n.-3-1834C>A | |
| ENST00000405440.6:c.145C>A | ENSP00000384152.2:p.Gln49Lys | |
| ENST00000526441.1:c.145C>A | ENSP00000433292.1:p.Gln49Lys | |
| ENST00000552726.1:n.196C>A | ||
| NM_000192.3:c.145C>A , LRG_670t1:c.145C>A | NP_000183.2:p.Gln49Lys | |
| NM_080717.2:c.-3-1834C>A | NP_542448.1:n.-3-1834C>A | |
| NM_181486.2:c.145C>A | NP_852259.1:p.Gln49Lys | |
| XM_017019912.1:c.193C>A | XP_016875401.1:p.Gln65Lys | |
| NM_080717.3:c.-3-1834C>A | NP_542448.1:n.-3-1834C>A | |
| NM_181486.4:c.145C>A MANE Select | NP_852259.1:p.Gln49Lys | |
| NM_080717.4:c.-3-1834C>A | NP_542448.1:n.-3-1834C>A |