Linked Data
ClinVar Variation Id:
2878809
ClinVar RCV Id:
RCV003707878
MyVariant Identifiers:
chr22:g.50964316G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50525887G>C , CM000684.2:g.50525887G>C | GRCh38 |
| NC_000022.10:g.50964316G>C , CM000684.1:g.50964316G>C | GRCh37 |
| NC_000022.9:g.49311182G>C | NCBI36 |
| NG_011860.1:g.9199C>G , LRG_727:g.9199C>G | |
| NG_016235.1:g.5553C>G | |
| NG_021419.1:g.22672G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252029.8:c.1332C>G (TYMP) MANE Select | ENSP00000252029.3:p.Gly444= | |
| ENST00000395680.6:c.1332C>G (TYMP) | ENSP00000379037.1:p.Gly444= | |
| ENST00000395681.6:c.1347C>G (TYMP) | ENSP00000379038.1:p.Gly449= | |
| ENST00000543927.6:c.-14+359C>G (SCO2) | ENSP00000444433.1:n.-14+359C>G | |
| ENST00000638598.2:c.-14+114C>G (SCO2) | ENSP00000491753.2:n.-14+114C>G | |
| ENST00000651490.1:c.124C>G (TYMP) | ||
| ENST00000652401.1:c.833C>G (TYMP) | ||
| ENST00000252029.7:c.1332C>G (TYMP) | ENSP00000252029.3:p.Gly444= | |
| ENST00000395678.7:c.1332C>G (TYMP) | ENSP00000379036.3:p.Gly444= | |
| ENST00000395680.5:c.1332C>G (TYMP) | ENSP00000379037.1:p.Gly444= | |
| ENST00000395681.5:c.1347C>G (TYMP) | ENSP00000379038.1:p.Gly449= | |
| ENST00000423348.1:c.-14+359C>G | ENSP00000403570.1:n.-14+359C>G | |
| ENST00000425169.1:c.1233C>G (TYMP) | ENSP00000395875.1:p.Gly411= | |
| ENST00000439934.5:c.-14+114C>G | ENSP00000415642.1:n.-14+114C>G | |
| ENST00000476284.1:n.1442C>G (TYMP) | ||
| ENST00000487577.5:n.1619C>G (TYMP) | ||
| ENST00000535425.5:c.-14+114C>G | ENSP00000444242.1:n.-14+114C>G | |
| ENST00000543927.5:c.-14+359C>G | ENSP00000444433.1:n.-14+359C>G | |
| NM_001113755.2:c.1332C>G (TYMP) | NP_001107227.1:p.Gly444= | |
| NM_001113756.2:c.1332C>G (TYMP) | NP_001107228.1:p.Gly444= | |
| NM_001169109.1:c.-14+359C>G (SCO2) | NP_001162580.1:n.-14+359C>G | |
| NM_001169110.1:c.-14+114C>G (SCO2) | NP_001162581.1:n.-14+114C>G | |
| NM_001257988.1:c.1332C>G , LRG_727t1:c.1332C>G (TYMP) | NP_001244917.1:p.Gly444= | |
| NM_001257989.1:c.1347C>G , LRG_727t2:c.1347C>G (TYMP) | NP_001244918.1:p.Gly449= | |
| NM_001953.4:c.1332C>G (TYMP) | NP_001944.1:p.Gly444= | |
| NM_001113755.3:c.1332C>G (TYMP) | NP_001107227.1:p.Gly444= | |
| NM_001113756.3:c.1332C>G (TYMP) | NP_001107228.1:p.Gly444= | |
| NM_001953.5:c.1332C>G (TYMP) MANE Select | NP_001944.1:p.Gly444= | |
| NM_001169109.2:c.-14+359C>G (SCO2) | NP_001162580.1:n.-14+359C>G |