Linked Data
dbSNP Id:
rs766380586
ExAC:
22:43558998 G / C
gnomAD v2:
22-43558998-G-C
gnomAD v3:
22-43162992-G-C
gnomAD v4:
22-43162992-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.43162992G>C , CM000684.2:g.43162992G>C | GRCh38 |
| NC_000022.10:g.43558998G>C , CM000684.1:g.43558998G>C | GRCh37 |
| NC_000022.9:g.41888942G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337554.8:c.*1G>C MANE Select | ENSP00000338004.3:n.*1G>C | |
| ENST00000329563.8:c.*1G>C | ENSP00000328973.4:n.*1G>C | |
| ENST00000337554.7:c.*1G>C | ENSP00000338004.3:n.*1G>C | |
| ENST00000396265.4:c.*1G>C | ENSP00000379563.4:n.*1G>C | |
| ENST00000583777.5:c.*1G>C | ENSP00000463495.1:n.*1G>C | |
| NM_000714.5:c.*1G>C | NP_000705.2:n.*1G>C | |
| NM_001256530.1:c.*1G>C | NP_001243459.1:n.*1G>C | |
| NM_001256531.1:c.*1G>C | NP_001243460.1:n.*1G>C | |
| NR_046308.1:n.420G>C | ||
| NM_000714.6:c.*1G>C MANE Select | NP_000705.2:n.*1G>C | |
| NR_046308.2:n.375G>C |