Linked Data
ClinVar Variation Id:
1628
ClinVar RCV Id:
RCV000001695
dbSNP Id:
rs118204015
gnomAD v2:
17-7126518-A-C
gnomAD v3:
17-7223199-A-C
gnomAD v4:
17-7223199-A-C
PubMed:
PMID:8554073
ERepo:
CA251906/MONDO:0008723/021
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7223199A>C , CM000679.2:g.7223199A>C | GRCh38 |
| NC_000017.10:g.7126518A>C , CM000679.1:g.7126518A>C | GRCh37 |
| NC_000017.9:g.7067242A>C | NCBI36 |
| NG_007975.1:g.8366A>C | |
| NG_008391.2:g.1852T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.1144A>C MANE Select | ENSP00000349297.5:p.Lys382Gln | |
| ENST00000322910.9:c.*1099A>C | ENSP00000325395.5:n.*1099A>C | |
| ENST00000350303.9:c.1078A>C | ENSP00000344152.5:p.Lys360Gln | |
| ENST00000356839.9:c.1144A>C | ENSP00000349297.5:p.Lys382Gln | |
| ENST00000542255.6:c.2A>C | ||
| ENST00000543245.6:c.1213A>C | ENSP00000438689.2:p.Lys405Gln | |
| ENST00000578579.2:n.93A>C | ||
| ENST00000578824.5:n.560A>C | ||
| ENST00000579425.5:n.168A>C | ||
| ENST00000582379.1:n.795A>C | ||
| ENST00000583858.5:c.173A>C | ||
| ENST00000585203.6:n.352A>C | ||
| NM_000018.3:c.1144A>C | NP_000009.1:p.Lys382Gln | |
| NM_001033859.2:c.1078A>C | NP_001029031.1:p.Lys360Gln | |
| NM_001270447.1:c.1213A>C | NP_001257376.1:p.Lys405Gln | |
| NM_001270448.1:c.916A>C | NP_001257377.1:p.Lys306Gln | |
| XM_006721516.2:c.1144A>C | XP_006721579.2:p.Lys382Gln | |
| XM_011523829.1:c.1144A>C | XP_011522131.1:p.Lys382Gln | |
| XM_011523830.1:c.1144A>C | XP_011522132.1:p.Lys382Gln | |
| XR_934021.1:n.1251A>C | ||
| XR_934022.1:n.1251A>C | ||
| XR_934023.1:n.1251A>C | ||
| XM_006721516.3:c.1144A>C | XP_006721579.2:p.Lys382Gln | |
| XM_011523829.2:c.1144A>C | XP_011522131.1:p.Lys382Gln | |
| XM_011523830.2:c.1144A>C | XP_011522132.1:p.Lys382Gln | |
| XM_024450741.1:c.1144A>C | XP_024306509.1:p.Lys382Gln | |
| XR_934021.2:n.1203A>C | ||
| XR_934022.2:n.1203A>C | ||
| XR_934023.2:n.1203A>C | ||
| NM_000018.4:c.1144A>C MANE Select | NP_000009.1:p.Lys382Gln | |
| NM_001033859.3:c.1078A>C | NP_001029031.1:p.Lys360Gln | |
| NM_001270447.2:c.1213A>C | NP_001257376.1:p.Lys405Gln | |
| NM_001270448.2:c.916A>C | NP_001257377.1:p.Lys306Gln |