Linked Data
dbSNP Id:
rs6124684
gnomAD v2:
20-43721493-C-T
gnomAD v3:
20-45092852-C-T
gnomAD v4:
20-45092852-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.45092852C>T , CM000682.2:g.45092852C>T | GRCh38 |
| NC_000020.10:g.43721493C>T , CM000682.1:g.43721493C>T | GRCh37 |
| NC_000020.9:g.43154907C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000537075.3:c.*2018G>A MANE Select | ENSP00000445595.1:n.*2018G>A | |
| ENST00000306117.5:c.*2018G>A | ENSP00000307694.1:n.*2018G>A | |
| NM_002251.3:c.*2018G>A | NP_002242.2:n.*2018G>A | |
| XM_005260409.3:c.*2018G>A | XP_005260466.1:n.*2018G>A | |
| NM_001322799.1:c.*2018G>A | NP_001309728.1:n.*2018G>A | |
| NM_002251.4:c.*2018G>A | NP_002242.2:n.*2018G>A | |
| XM_017027846.1:c.*2018G>A | XP_016883335.1:n.*2018G>A | |
| NM_001322799.2:c.*2018G>A MANE Select | NP_001309728.1:n.*2018G>A | |
| NM_002251.5:c.*2018G>A | NP_002242.2:n.*2018G>A |