Linked Data
ClinVar Variation Id:
2910360
ClinVar RCV Id:
RCV003601294
dbSNP Id:
rs748450834
ExAC:
17:7127175 G / C
gnomAD v2:
17-7127175-G-C
gnomAD v4:
17-7223856-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7223856G>C , CM000679.2:g.7223856G>C | GRCh38 |
| NC_000017.10:g.7127175G>C , CM000679.1:g.7127175G>C | GRCh37 |
| NC_000017.9:g.7067899G>C | NCBI36 |
| NG_007975.1:g.9023G>C | |
| NG_008391.2:g.1195C>G | |
| NG_033038.1:g.15689C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.1313G>C MANE Select | ENSP00000349297.5:p.Gly438Ala | |
| ENST00000322910.9:c.*1268G>C | ENSP00000325395.5:n.*1268G>C | |
| ENST00000350303.9:c.1247G>C | ENSP00000344152.5:p.Gly416Ala | |
| ENST00000356839.9:c.1313G>C | ENSP00000349297.5:p.Gly438Ala | |
| ENST00000542255.6:c.171G>C | ||
| ENST00000543245.6:c.1382G>C | ENSP00000438689.2:p.Gly461Ala | |
| ENST00000578711.1:n.352G>C | ||
| ENST00000579425.5:n.337G>C | ||
| ENST00000579546.1:c.150G>C | ||
| ENST00000583074.5:n.32G>C | ||
| ENST00000583850.5:n.88G>C | ||
| ENST00000583858.5:c.342G>C | ||
| ENST00000585203.6:n.521G>C | ||
| NM_000018.3:c.1313G>C | NP_000009.1:p.Gly438Ala | |
| NM_001033859.2:c.1247G>C | NP_001029031.1:p.Gly416Ala | |
| NM_001270447.1:c.1382G>C | NP_001257376.1:p.Gly461Ala | |
| NM_001270448.1:c.1085G>C | NP_001257377.1:p.Gly362Ala | |
| XM_006721516.2:c.1313G>C | XP_006721579.2:p.Gly438Ala | |
| XM_011523829.1:c.1313G>C | XP_011522131.1:p.Gly438Ala | |
| XM_011523830.1:c.1313G>C | XP_011522132.1:p.Gly438Ala | |
| XR_934021.1:n.1420G>C | ||
| XR_934022.1:n.1420G>C | ||
| XR_934023.1:n.1420G>C | ||
| XM_006721516.3:c.1313G>C | XP_006721579.2:p.Gly438Ala | |
| XM_011523829.2:c.1313G>C | XP_011522131.1:p.Gly438Ala | |
| XM_011523830.2:c.1313G>C | XP_011522132.1:p.Gly438Ala | |
| XM_024450741.1:c.1313G>C | XP_024306509.1:p.Gly438Ala | |
| XR_934021.2:n.1372G>C | ||
| XR_934022.2:n.1372G>C | ||
| XR_934023.2:n.1372G>C | ||
| NM_000018.4:c.1313G>C MANE Select | NP_000009.1:p.Gly438Ala | |
| NM_001033859.3:c.1247G>C | NP_001029031.1:p.Gly416Ala | |
| NM_001270447.2:c.1382G>C | NP_001257376.1:p.Gly461Ala | |
| NM_001270448.2:c.1085G>C | NP_001257377.1:p.Gly362Ala |