Linked Data
ClinVar Variation Id:
337997
dbSNP Id:
rs140967031
ExAC:
20:25319976 A / G
gnomAD v2:
20-25319976-A-G
gnomAD v3:
20-25339340-A-G
gnomAD v4:
20-25339340-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.25339340A>G , CM000682.2:g.25339340A>G | GRCh38 |
| NC_000020.10:g.25319976A>G , CM000682.1:g.25319976A>G | GRCh37 |
| NC_000020.9:g.25267976A>G | NCBI36 |
| NG_028119.1:g.56643T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000339157.10:c.203T>C MANE Select | ENSP00000341408.5:p.Val68Ala | |
| ENST00000376542.8:c.203T>C | ENSP00000365725.3:p.Val68Ala | |
| ENST00000672406.1:c.-269T>C | ENSP00000500208.1:n.-269T>C | |
| ENST00000672566.1:c.-269T>C | ENSP00000500106.1:n.-269T>C | |
| ENST00000673121.1:c.-269T>C | ENSP00000499839.1:n.-269T>C | |
| ENST00000339157.9:c.203T>C | ENSP00000341408.5:p.Val68Ala | |
| ENST00000376542.7:c.203T>C | ENSP00000365725.3:p.Val68Ala | |
| ENST00000450393.5:c.68T>C | ENSP00000413311.1:p.Val23Ala | |
| ENST00000461204.1:c.203T>C | ENSP00000460249.1:p.Val68Ala | |
| ENST00000471287.5:c.-269T>C | ENSP00000460950.1:n.-269T>C | |
| ENST00000491682.5:c.-269T>C | ENSP00000459495.1:n.-269T>C | |
| NM_001042472.2:c.203T>C | NP_001035937.1:p.Val68Ala | |
| NM_015600.4:c.203T>C | NP_056415.1:p.Val68Ala | |
| XM_005260698.1:c.203T>C | XP_005260755.1:p.Val68Ala | |
| XM_005260699.3:c.203T>C | XP_005260756.1:p.Val68Ala | |
| XM_005260700.1:c.-269T>C | XP_005260757.1:n.-269T>C | |
| XM_011529214.1:c.203T>C | XP_011527516.1:p.Val68Ala | |
| XM_011529215.1:c.-389T>C | XP_011527517.1:n.-389T>C | |
| XM_011529216.1:c.-276T>C | XP_011527518.1:n.-276T>C | |
| XM_011529217.1:c.-342T>C | XP_011527519.1:n.-342T>C | |
| XM_011529218.1:c.-335T>C | XP_011527520.1:n.-335T>C | |
| XM_011529214.2:c.203T>C | XP_011527516.1:p.Val68Ala | |
| XM_017027796.1:c.-389T>C | XP_016883285.1:n.-389T>C | |
| XM_017027797.2:c.203T>C | XP_016883286.1:p.Val68Ala | |
| XR_002958465.1:n.213T>C | ||
| XR_002958466.1:n.213T>C | ||
| XR_002958467.1:n.12T>C | ||
| NM_001042472.3:c.203T>C MANE Select | NP_001035937.1:p.Val68Ala | |
| NM_015600.5:c.203T>C | NP_056415.1:p.Val68Ala |