Linked Data
ClinVar Variation Id:
2002249
ClinVar RCV Id:
RCV002820258
MyVariant Identifiers:
chr20:g.31024493T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.32436690T>C , CM000682.2:g.32436690T>C | GRCh38 |
| NC_000020.10:g.31024493T>C , CM000682.1:g.31024493T>C | GRCh37 |
| NC_000020.9:g.30488154T>C | NCBI36 |
| NG_027868.1:g.83347T>C , LRG_630:g.83347T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375687.10:c.3978T>C MANE Select | ENSP00000364839.4:p.Pro1326= | |
| ENST00000646985.1:c.3795T>C | ENSP00000495053.1:p.Pro1265= | |
| ENST00000647223.1:n.6331T>C | ||
| ENST00000651418.1:c.1870-1740T>C | ENSP00000499150.1:n.1870-1740T>C | |
| ENST00000306058.9:c.3963T>C | ENSP00000305119.5:p.Pro1321= | |
| ENST00000375687.8:c.3978T>C | ENSP00000364839.4:p.Pro1326= | |
| ENST00000613218.4:c.3978T>C | ENSP00000480487.1:p.Pro1326= | |
| ENST00000620121.4:c.3978T>C | ENSP00000481978.1:p.Pro1326= | |
| NM_015338.5:c.3978T>C , LRG_630t1:c.3978T>C | NP_056153.2:p.Pro1326= | |
| XM_006723727.2:c.3975T>C | XP_006723790.1:p.Pro1325= | |
| XM_006723728.2:c.3948T>C | XP_006723791.1:p.Pro1316= | |
| XM_006723730.2:c.3894T>C | XP_006723793.1:p.Pro1298= | |
| XM_006723732.2:c.3795T>C | XP_006723795.1:p.Pro1265= | |
| XM_006723733.1:c.3294T>C | XP_006723796.1:p.Pro1098= | |
| XM_011528647.1:c.4242T>C | XP_011526949.1:p.Pro1414= | |
| XM_011528648.1:c.4239T>C | XP_011526950.1:p.Pro1413= | |
| XM_011528649.1:c.4158T>C | XP_011526951.1:p.Pro1386= | |
| XM_011528650.1:c.4089T>C | XP_011526952.1:p.Pro1363= | |
| XM_011528651.1:c.3957T>C | XP_011526953.1:p.Pro1319= | |
| XM_011528652.1:c.3894T>C | XP_011526954.1:p.Pro1298= | |
| NM_001363734.1:c.3795T>C | NP_001350663.1:p.Pro1265= | |
| XM_006723727.3:c.3975T>C | XP_006723790.1:p.Pro1325= | |
| XM_006723728.3:c.3948T>C | XP_006723791.1:p.Pro1316= | |
| XM_006723730.4:c.3894T>C | XP_006723793.1:p.Pro1298= | |
| XM_011528648.3:c.4239T>C | XP_011526950.1:p.Pro1413= | |
| XM_011528652.2:c.3894T>C | XP_011526954.1:p.Pro1298= | |
| XM_017027704.1:c.3894T>C | XP_016883193.1:p.Pro1298= | |
| XM_017027705.1:c.3894T>C | XP_016883194.1:p.Pro1298= | |
| XM_017027706.1:c.3825T>C | XP_016883195.1:p.Pro1275= | |
| NM_015338.6:c.3978T>C MANE Select | NP_056153.2:p.Pro1326= |