Linked Data
ClinVar Variation Id:
1331410
ClinVar RCV Id:
RCV001806754
dbSNP Id:
rs2141016779
MyVariant Identifiers:
chr15:g.38643829T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.38351628T>C , CM000677.2:g.38351628T>C | GRCh38 |
| NC_000015.9:g.38643829T>C , CM000677.1:g.38643829T>C | GRCh37 |
| NC_000015.8:g.36431121T>C | NCBI36 |
| NG_008980.1:g.103778T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299084.9:c.1299T>C MANE Select | ENSP00000299084.4:p.Cys433= | |
| ENST00000299084.8:c.1299T>C | ENSP00000299084.4:p.Cys433= | |
| NM_152594.2:c.1299T>C | NP_689807.1:p.Cys433= | |
| XM_005254202.2:c.1335T>C | XP_005254259.1:p.Cys445= | |
| XM_005254203.3:c.1077T>C | XP_005254260.1:p.Cys359= | |
| XM_011521288.1:c.1236T>C | XP_011519590.1:p.Cys412= | |
| XM_011521289.1:c.1236T>C | XP_011519591.1:p.Cys412= | |
| XM_011521290.1:c.1236T>C | XP_011519592.1:p.Cys412= | |
| XM_005254202.3:c.1335T>C | XP_005254259.1:p.Cys445= | |
| XM_011521289.3:c.1236T>C | XP_011519591.1:p.Cys412= | |
| NM_152594.3:c.1299T>C MANE Select | NP_689807.1:p.Cys433= |