Linked Data
dbSNP Id:
rs2069380022
gnomAD v4:
22-50526412-G-C
MyVariant Identifiers:
chr22:g.50964841G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50526412G>C , CM000684.2:g.50526412G>C | GRCh38 |
| NC_000022.10:g.50964841G>C , CM000684.1:g.50964841G>C | GRCh37 |
| NC_000022.9:g.49311707G>C | NCBI36 |
| NG_011860.1:g.8674C>G , LRG_727:g.8674C>G | |
| NG_016235.1:g.5028C>G | |
| NG_021419.1:g.23197G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252029.8:c.993C>G (TYMP) MANE Select | ENSP00000252029.3:p.Ala331= | |
| ENST00000395680.6:c.993C>G (TYMP) | ENSP00000379037.1:p.Ala331= | |
| ENST00000395681.6:c.993C>G (TYMP) | ENSP00000379038.1:p.Ala331= | |
| ENST00000543927.6:c.-180C>G (SCO2) | ENSP00000444433.1:n.-180C>G | |
| ENST00000650719.1:c.874C>G (TYMP) | ENSP00000498276.1:p.Arg292Gly | |
| ENST00000651401.1:c.477C>G (TYMP) | ENSP00000499115.1:p.Ala159= | |
| ENST00000652401.1:c.494C>G (TYMP) | ||
| ENST00000252029.7:c.993C>G (TYMP) | ENSP00000252029.3:p.Ala331= | |
| ENST00000395678.7:c.993C>G (TYMP) | ENSP00000379036.3:p.Ala331= | |
| ENST00000395680.5:c.993C>G (TYMP) | ENSP00000379037.1:p.Ala331= | |
| ENST00000395681.5:c.993C>G (TYMP) | ENSP00000379038.1:p.Ala331= | |
| ENST00000423348.1:c.-180C>G | ENSP00000403570.1:n.-180C>G | |
| ENST00000425169.1:c.894C>G (TYMP) | ENSP00000395875.1:p.Ala298= | |
| ENST00000476284.1:n.999C>G (TYMP) | ||
| ENST00000487577.5:n.1280C>G (TYMP) | ||
| ENST00000543927.5:c.-180C>G | ENSP00000444433.1:n.-180C>G | |
| NM_001113755.2:c.993C>G (TYMP) | NP_001107227.1:p.Ala331= | |
| NM_001113756.2:c.993C>G (TYMP) | NP_001107228.1:p.Ala331= | |
| NM_001169109.1:c.-180C>G (SCO2) | NP_001162580.1:n.-180C>G | |
| NM_001257988.1:c.993C>G , LRG_727t1:c.993C>G (TYMP) | NP_001244917.1:p.Ala331= | |
| NM_001257989.1:c.993C>G , LRG_727t2:c.993C>G (TYMP) | NP_001244918.1:p.Ala331= | |
| NM_001953.4:c.993C>G (TYMP) | NP_001944.1:p.Ala331= | |
| NM_001113755.3:c.993C>G (TYMP) | NP_001107227.1:p.Ala331= | |
| NM_001113756.3:c.993C>G (TYMP) | NP_001107228.1:p.Ala331= | |
| NM_001953.5:c.993C>G (TYMP) MANE Select | NP_001944.1:p.Ala331= | |
| NM_001169109.2:c.-180C>G (SCO2) | NP_001162580.1:n.-180C>G |