Linked Data
ClinVar Variation Id:
2158446
ClinVar RCV Id:
RCV003069773
MyVariant Identifiers:
chr15:g.38643541C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.38351340C>T , CM000677.2:g.38351340C>T | GRCh38 |
| NC_000015.9:g.38643541C>T , CM000677.1:g.38643541C>T | GRCh37 |
| NC_000015.8:g.36430833C>T | NCBI36 |
| NG_008980.1:g.103490C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299084.9:c.1011C>T MANE Select | ENSP00000299084.4:p.Tyr337= | |
| ENST00000299084.8:c.1011C>T | ENSP00000299084.4:p.Tyr337= | |
| NM_152594.2:c.1011C>T | NP_689807.1:p.Tyr337= | |
| XM_005254202.2:c.1047C>T | XP_005254259.1:p.Tyr349= | |
| XM_005254203.3:c.789C>T | XP_005254260.1:p.Tyr263= | |
| XM_011521288.1:c.948C>T | XP_011519590.1:p.Tyr316= | |
| XM_011521289.1:c.948C>T | XP_011519591.1:p.Tyr316= | |
| XM_011521290.1:c.948C>T | XP_011519592.1:p.Tyr316= | |
| XM_005254202.3:c.1047C>T | XP_005254259.1:p.Tyr349= | |
| XM_011521289.3:c.948C>T | XP_011519591.1:p.Tyr316= | |
| NM_152594.3:c.1011C>T MANE Select | NP_689807.1:p.Tyr337= |