Linked Data
ClinVar Variation Id:
932861
ClinVar RCV Id:
RCV001200821
dbSNP Id:
rs2071225938
gnomAD v4:
17-7221551-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7221551T>G , CM000679.2:g.7221551T>G | GRCh38 |
| NC_000017.10:g.7124870T>G , CM000679.1:g.7124870T>G | GRCh37 |
| NC_000017.9:g.7065594T>G | NCBI36 |
| NG_007975.1:g.6718T>G | |
| NG_008391.2:g.3500A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.491T>G MANE Select | ENSP00000349297.5:p.Val164Gly | |
| ENST00000322910.9:c.*446T>G | ENSP00000325395.5:n.*446T>G | |
| ENST00000350303.9:c.425T>G | ENSP00000344152.5:p.Val142Gly | |
| ENST00000356839.9:c.491T>G | ENSP00000349297.5:p.Val164Gly | |
| ENST00000543245.6:c.560T>G | ENSP00000438689.2:p.Val187Gly | |
| ENST00000577191.5:n.568T>G | ||
| ENST00000577433.5:n.699T>G | ||
| ENST00000577857.5:n.307T>G | ||
| ENST00000579286.5:n.672T>G | ||
| ENST00000579886.2:c.329T>G | ENSP00000463246.1:p.Val110Gly | |
| ENST00000580365.1:n.222T>G | ||
| ENST00000581378.5:c.209T>G | ||
| ENST00000581562.5:n.525-401T>G | ||
| ENST00000582166.1:n.472T>G | ||
| ENST00000583312.5:c.491T>G | ENSP00000467920.1:p.Val164Gly | |
| ENST00000583760.1:n.273T>G | ||
| NM_000018.3:c.491T>G | NP_000009.1:p.Val164Gly | |
| NM_001033859.2:c.425T>G | NP_001029031.1:p.Val142Gly | |
| NM_001270447.1:c.560T>G | NP_001257376.1:p.Val187Gly | |
| NM_001270448.1:c.263T>G | NP_001257377.1:p.Val88Gly | |
| XM_006721516.2:c.491T>G | XP_006721579.2:p.Val164Gly | |
| XM_011523829.1:c.491T>G | XP_011522131.1:p.Val164Gly | |
| XM_011523830.1:c.491T>G | XP_011522132.1:p.Val164Gly | |
| XR_934021.1:n.598T>G | ||
| XR_934022.1:n.598T>G | ||
| XR_934023.1:n.598T>G | ||
| XM_006721516.3:c.491T>G | XP_006721579.2:p.Val164Gly | |
| XM_011523829.2:c.491T>G | XP_011522131.1:p.Val164Gly | |
| XM_011523830.2:c.491T>G | XP_011522132.1:p.Val164Gly | |
| XM_024450741.1:c.491T>G | XP_024306509.1:p.Val164Gly | |
| XR_934021.2:n.550T>G | ||
| XR_934022.2:n.550T>G | ||
| XR_934023.2:n.550T>G | ||
| NM_000018.4:c.491T>G MANE Select | NP_000009.1:p.Val164Gly | |
| NM_001033859.3:c.425T>G | NP_001029031.1:p.Val142Gly | |
| NM_001270447.2:c.560T>G | NP_001257376.1:p.Val187Gly | |
| NM_001270448.2:c.263T>G | NP_001257377.1:p.Val88Gly |