Linked Data
ClinVar Variation Id:
333407
ClinVar RCV Id:
RCV000294691
RCV000291625
RCV000391047
RCV000607352
RCV001139538
RCV001139539
RCV001522540
dbSNP Id:
rs1060742
ExAC:
2:20189015 T / C
gnomAD v2:
2-20189015-T-C
gnomAD v3:
2-19989254-T-C
gnomAD v4:
2-19989254-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.19989254T>C , CM000664.2:g.19989254T>C | GRCh38 |
| NC_000002.11:g.20189015T>C , CM000664.1:g.20189015T>C | GRCh37 |
| NC_000002.10:g.20052496T>C | NCBI36 |
| NG_021212.1:g.5870A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281405.9:c.53A>G MANE Select | ENSP00000281405.5:p.Gln18Arg | |
| ENST00000345530.8:c.53A>G MANE Plus Clinical | ENSP00000314444.5:p.Gln18Arg | |
| ENST00000281405.8:c.53A>G | ENSP00000281405.4:p.Gln18Arg | |
| ENST00000345530.7:c.53A>G | ENSP00000314444.5:p.Gln18Arg | |
| ENST00000414212.5:c.53A>G | ENSP00000390802.1:p.Gln18Arg | |
| NM_001006657.1:c.53A>G | NP_001006658.1:p.Gln18Arg | |
| NM_020779.3:c.53A>G | NP_065830.2:p.Gln18Arg | |
| XR_426989.2:n.86A>G | ||
| XR_939699.1:n.86A>G | ||
| XR_001738862.1:n.86A>G | ||
| XR_426989.3:n.86A>G | ||
| XR_939699.3:n.86A>G | ||
| NM_001006657.2:c.53A>G MANE Plus Clinical | NP_001006658.1:p.Gln18Arg | |
| NM_020779.4:c.53A>G MANE Select | NP_065830.2:p.Gln18Arg |