Linked Data
ClinVar Variation Id:
790968
ClinVar RCV Id:
RCV000973854
dbSNP Id:
rs1183459867
gnomAD v2:
17-7126058-G-T
gnomAD v3:
17-7222739-G-T
gnomAD v4:
17-7222739-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7222739G>T , CM000679.2:g.7222739G>T | GRCh38 |
| NC_000017.10:g.7126058G>T , CM000679.1:g.7126058G>T | GRCh37 |
| NC_000017.9:g.7066782G>T | NCBI36 |
| NG_007975.1:g.7906G>T | |
| NG_008391.2:g.2312C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.951G>T MANE Select | ENSP00000349297.5:p.Val317= | |
| ENST00000322910.9:c.*906G>T | ENSP00000325395.5:n.*906G>T | |
| ENST00000350303.9:c.885G>T | ENSP00000344152.5:p.Val295= | |
| ENST00000356839.9:c.951G>T | ENSP00000349297.5:p.Val317= | |
| ENST00000543245.6:c.1020G>T | ENSP00000438689.2:p.Val340= | |
| ENST00000578824.5:n.100G>T | ||
| ENST00000581378.5:c.669G>T | ||
| ENST00000582379.1:n.335G>T | ||
| NM_000018.3:c.951G>T | NP_000009.1:p.Val317= | |
| NM_001033859.2:c.885G>T | NP_001029031.1:p.Val295= | |
| NM_001270447.1:c.1020G>T | NP_001257376.1:p.Val340= | |
| NM_001270448.1:c.723G>T | NP_001257377.1:p.Val241= | |
| XM_006721516.2:c.951G>T | XP_006721579.2:p.Val317= | |
| XM_011523829.1:c.951G>T | XP_011522131.1:p.Val317= | |
| XM_011523830.1:c.951G>T | XP_011522132.1:p.Val317= | |
| XR_934021.1:n.1058G>T | ||
| XR_934022.1:n.1058G>T | ||
| XR_934023.1:n.1058G>T | ||
| XM_006721516.3:c.951G>T | XP_006721579.2:p.Val317= | |
| XM_011523829.2:c.951G>T | XP_011522131.1:p.Val317= | |
| XM_011523830.2:c.951G>T | XP_011522132.1:p.Val317= | |
| XM_024450741.1:c.951G>T | XP_024306509.1:p.Val317= | |
| XR_934021.2:n.1010G>T | ||
| XR_934022.2:n.1010G>T | ||
| XR_934023.2:n.1010G>T | ||
| NM_000018.4:c.951G>T MANE Select | NP_000009.1:p.Val317= | |
| NM_001033859.3:c.885G>T | NP_001029031.1:p.Val295= | |
| NM_001270447.2:c.1020G>T | NP_001257376.1:p.Val340= | |
| NM_001270448.2:c.723G>T | NP_001257377.1:p.Val241= |