Linked Data
ClinVar Variation Id:
255197
ClinVar RCV Id:
RCV000243137
RCV000271943
RCV000311703
RCV000327005
RCV000366465
RCV001709522
RCV003761843
dbSNP Id:
rs6028
ExAC:
1:169551682 T / C
gnomAD v2:
1-169551682-T-C
gnomAD v3:
1-169582444-T-C
gnomAD v4:
1-169582444-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169582444T>C , CM000663.2:g.169582444T>C | GRCh38 |
| NC_000001.10:g.169551682T>C , CM000663.1:g.169551682T>C | GRCh37 |
| NC_000001.9:g.167818306T>C | NCBI36 |
| NG_011806.1:g.9088A>G , LRG_553:g.9088A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367797.9:c.237A>G MANE Select | ENSP00000356771.3:p.Gln79= | |
| ENST00000367796.3:c.237A>G | ENSP00000356770.3:p.Gln79= | |
| ENST00000367797.7:c.237A>G | ENSP00000356771.3:p.Gln79= | |
| NM_000130.4:c.237A>G , LRG_553t1:c.237A>G | NP_000121.2:p.Gln79= | |
| XM_017000660.2:c.-162+3785A>G | XP_016856149.1:n.-162+3785A>G | |
| NM_000130.5:c.237A>G MANE Select | NP_000121.2:p.Gln79= |