Linked Data
ClinVar Variation Id:
963930
ClinVar RCV Id:
RCV001238049
dbSNP Id:
rs1010062693
gnomAD v2:
17-8140698-C-G
gnomAD v4:
17-8237380-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8237380C>G , CM000679.2:g.8237380C>G | GRCh38 |
| NC_000017.10:g.8140698C>G , CM000679.1:g.8140698C>G | GRCh37 |
| NC_000017.9:g.8081423C>G | NCBI36 |
| NG_032148.1:g.15716G>C | |
| NG_032148.2:g.15716G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000580299.2:c.787G>C | ENSP00000462607.2:p.Val263Leu | |
| ENST00000581729.2:c.787G>C | ENSP00000462720.2:p.Val263Leu | |
| ENST00000581967.2:n.809G>C | ||
| ENST00000583254.2:n.201G>C | ||
| ENST00000699849.1:c.-111G>C | ENSP00000514647.1:n.-111G>C | |
| ENST00000699850.1:n.56-1038G>C | ||
| ENST00000699851.1:n.809G>C | ||
| ENST00000699852.1:c.787G>C | ENSP00000514648.1:p.Val263Leu | |
| ENST00000699853.1:c.787G>C | ENSP00000514649.1:p.Val263Leu | |
| ENST00000699854.1:n.580G>C | ||
| ENST00000699855.1:n.809G>C | ||
| ENST00000699856.1:c.787G>C | ENSP00000514650.1:p.Val263Leu | |
| ENST00000699857.1:n.795G>C | ||
| ENST00000699858.1:c.787G>C | ENSP00000514651.1:p.Val263Leu | |
| ENST00000699859.1:c.787G>C | ENSP00000514652.1:p.Val263Leu | |
| ENST00000699861.1:n.809G>C | ||
| ENST00000699862.1:n.674G>C | ||
| ENST00000449476.7:c.682G>C | ENSP00000396018.2:p.Val228Leu | |
| ENST00000581671.2:n.628G>C | ||
| ENST00000643543.1:c.787G>C | ENSP00000494323.1:p.Val263Leu | |
| ENST00000651323.1:c.787G>C MANE Select | ENSP00000498499.1:p.Val263Leu | |
| ENST00000315684.12:c.787G>C | ENSP00000313759.8:p.Val263Leu | |
| ENST00000449476.6:c.682G>C | ENSP00000396018.2:p.Val228Leu | |
| ENST00000581671.1:n.628G>C | ||
| NM_025099.5:c.787G>C | NP_079375.3:p.Val263Leu | |
| NR_046431.1:n.741G>C | ||
| XM_006721577.2:c.787G>C | XP_006721640.1:p.Val263Leu | |
| XM_006721578.2:c.787G>C | XP_006721641.1:p.Val263Leu | |
| XM_006721579.2:c.787G>C | XP_006721642.1:p.Val263Leu | |
| XM_011524010.1:c.682G>C | XP_011522312.1:p.Val228Leu | |
| XM_011524011.1:c.-115G>C | XP_011522313.1:n.-115G>C | |
| XR_429823.2:n.830G>C | ||
| XR_429824.2:n.830G>C | ||
| XR_429825.1:n.830G>C | ||
| NM_025099.6:c.787G>C MANE Select | NP_079375.3:p.Val263Leu | |
| XM_006721577.3:c.787G>C | XP_006721640.1:p.Val263Leu | |
| XM_006721578.3:c.787G>C | XP_006721641.1:p.Val263Leu | |
| XM_011524010.2:c.682G>C | XP_011522312.1:p.Val228Leu | |
| XM_011524011.2:c.-115G>C | XP_011522313.1:n.-115G>C | |
| XR_001752639.1:n.830G>C | ||
| XR_001752640.1:n.830G>C | ||
| XR_001752641.1:n.830G>C | ||
| XR_001752642.1:n.830G>C | ||
| XR_001752643.1:n.830G>C | ||
| XR_001752644.1:n.830G>C | ||
| XR_002958073.1:n.830G>C | ||
| XR_429823.3:n.830G>C | ||
| XR_429824.3:n.830G>C | ||
| NR_046431.2:n.702G>C |