Linked Data
ClinVar Variation Id:
2111905
ClinVar RCV Id:
RCV003024069
dbSNP Id:
rs1193245061
MyVariant Identifiers:
chr8:g.61761646T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.60849087T>C , CM000670.2:g.60849087T>C | GRCh38 |
| NC_000008.10:g.61761646T>C , CM000670.1:g.61761646T>C | GRCh37 |
| NC_000008.9:g.61924200T>C | NCBI36 |
| NG_007009.1:g.175308T>C , LRG_176:g.175308T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695853.1:c.5337T>C | ENSP00000512218.1:p.Ala1779= | |
| ENST00000423902.7:c.5337T>C MANE Select | ENSP00000392028.1:p.Ala1779= | |
| ENST00000423902.6:c.5337T>C | ENSP00000392028.1:p.Ala1779= | |
| ENST00000524602.5:c.1717-13142T>C | ENSP00000437061.1:n.1717-13142T>C | |
| NM_001316690.1:c.1717-13142T>C | NP_001303619.1:n.1717-13142T>C | |
| NM_017780.3:c.5337T>C | NP_060250.2:p.Ala1779= | |
| XM_011517553.1:c.5427T>C | XP_011515855.1:p.Ala1809= | |
| XM_011517554.1:c.5427T>C | XP_011515856.1:p.Ala1809= | |
| XM_011517555.1:c.5427T>C | XP_011515857.1:p.Ala1809= | |
| XM_011517556.1:c.5427T>C | XP_011515858.1:p.Ala1809= | |
| XM_011517557.1:c.3414T>C | XP_011515859.1:p.Ala1138= | |
| XM_011517558.1:c.2964T>C | XP_011515860.1:p.Ala988= | |
| XM_011517559.1:c.2172T>C | XP_011515861.1:p.Ala724= | |
| XM_011517553.2:c.5427T>C | XP_011515855.1:p.Ala1809= | |
| XM_011517554.3:c.5427T>C | XP_011515856.1:p.Ala1809= | |
| XM_011517555.2:c.5427T>C | XP_011515857.1:p.Ala1809= | |
| XM_017013612.1:c.5427T>C | XP_016869101.1:p.Ala1809= | |
| XM_017013613.1:c.5337T>C | XP_016869102.1:p.Ala1779= | |
| NM_017780.4:c.5337T>C MANE Select | NP_060250.2:p.Ala1779= |