Linked Data
dbSNP Id:
rs1159731132
gnomAD v2:
14-101349373-C-A
gnomAD v3:
14-100883036-C-A
gnomAD v4:
14-100883036-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.100883036C>A , CM000676.2:g.100883036C>A | GRCh38 |
| NC_000014.8:g.101349373C>A , CM000676.1:g.101349373C>A | GRCh37 |
| NC_000014.7:g.100419126C>A | NCBI36 |
| NG_045001.1:g.6812G>T | |
| NG_045000.5:g.51768C>A | |
| NG_045000.6:g.51768C>A | |
| NG_045001.2:g.25687G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649591.1:c.1753G>T (RTL1) MANE Select | ENSP00000497482.1:p.Asp585Tyr | |
| ENST00000534062.1:c.1753G>T (RTL1) | ENSP00000435342.1:p.Asp585Tyr | |
| NM_001134888.2:c.1753G>T (RTL1) | NP_001128360.1:p.Asp585Tyr | |
| NR_029696.1:n.58C>A (MIR127) | ||
| NM_001134888.3:c.1753G>T (RTL1) MANE Select | NP_001128360.1:p.Asp585Tyr |