Linked Data
ClinVar Variation Id:
12791
ClinVar RCV Id:
RCV000013632
RCV000034690
RCV000121999
RCV000128921
RCV000275977
RCV000368190
RCV000755699
RCV000986270
RCV001079357
dbSNP Id:
rs11203289
ExAC:
1:17380507 G / C
gnomAD v2:
1-17380507-G-C
gnomAD v3:
1-17054012-G-C
gnomAD v4:
1-17054012-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17054012G>C , CM000663.2:g.17054012G>C | GRCh38 |
| NC_000001.10:g.17380507G>C , CM000663.1:g.17380507G>C | GRCh37 |
| NC_000001.9:g.17253094G>C | NCBI36 |
| NG_012340.1:g.5159C>G , LRG_316:g.5159C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375499.8:c.8C>G MANE Select | ENSP00000364649.3:p.Ala3Gly | |
| ENST00000375499.7:c.8C>G | ENSP00000364649.3:p.Ala3Gly | |
| ENST00000466613.2:n.20C>G | ||
| NM_003000.2:c.8C>G , LRG_316t1:c.8C>G | NP_002991.2:p.Ala3Gly | |
| NM_003000.3:c.8C>G MANE Select | NP_002991.2:p.Ala3Gly |