Linked Data
ClinVar Variation Id:
5143
ClinVar RCV Id:
RCV000005450
RCV000220605
RCV000504855
RCV000724016
RCV000763237
RCV000824776
RCV000984012
dbSNP Id:
rs151045328
ExAC:
11:17552978 C / T
gnomAD v2:
11-17552978-C-T
gnomAD v3:
11-17531431-C-T
gnomAD v4:
11-17531431-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17531431C>T , CM000673.2:g.17531431C>T | GRCh38 |
| NC_000011.9:g.17552978C>T , CM000673.1:g.17552978C>T | GRCh37 |
| NC_000011.8:g.17509554C>T | NCBI36 |
| NG_011883.1:g.17986G>A | |
| NG_011883.2:g.17986G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000005226.12:c.216G>A MANE Select | ENSP00000005226.7:p.Val72= | |
| ENST00000318024.9:c.216G>A MANE Plus Clinical | ENSP00000317018.4:p.Val72= | |
| ENST00000005226.11:c.216G>A | ENSP00000005226.7:p.Val72= | |
| ENST00000318024.8:c.216G>A | ENSP00000317018.4:p.Val72= | |
| ENST00000526181.1:c.249G>A | ENSP00000437128.1:p.Val83= | |
| ENST00000526313.5:c.216G>A | ENSP00000432236.1:p.Val72= | |
| ENST00000527020.5:c.216G>A | ENSP00000436934.1:p.Val72= | |
| ENST00000527720.5:c.123G>A | ENSP00000432944.1:p.Val41= | |
| NM_001297764.1:c.216G>A | NP_001284693.1:p.Val72= | |
| NM_005709.3:c.216G>A | NP_005700.2:p.Val72= | |
| NM_153676.3:c.216G>A | NP_710142.1:p.Val72= | |
| NR_123738.1:n.325G>A | ||
| XM_011519831.1:c.216G>A | XP_011518133.1:p.Val72= | |
| XM_011519832.1:c.216G>A | XP_011518134.1:p.Val72= | |
| XM_011519833.1:c.216G>A | XP_011518135.1:p.Val72= | |
| XM_011519834.1:c.216G>A | XP_011518136.1:p.Val72= | |
| XR_930841.1:n.325G>A | ||
| XR_930842.1:n.325G>A | ||
| XM_011519832.3:c.216G>A | XP_011518134.1:p.Val72= | |
| XM_011519834.2:c.216G>A | XP_011518136.1:p.Val72= | |
| XM_017017072.1:c.216G>A | XP_016872561.1:p.Val72= | |
| XM_017017073.1:c.216G>A | XP_016872562.1:p.Val72= | |
| XM_017017074.1:c.216G>A | XP_016872563.1:p.Val72= | |
| XM_017017075.1:c.216G>A | XP_016872564.1:p.Val72= | |
| XR_001747717.2:n.325G>A | ||
| NM_153676.4:c.216G>A MANE Select | NP_710142.1:p.Val72= | |
| NM_001297764.2:c.216G>A | NP_001284693.1:p.Val72= | |
| NM_005709.4:c.216G>A MANE Plus Clinical | NP_005700.2:p.Val72= | |
| NR_123738.2:n.325G>A |