Linked Data
ClinVar Variation Id:
323525
dbSNP Id:
rs566359654
gnomAD v2:
17-42345489-G-A
gnomAD v3:
17-44268121-G-A
gnomAD v4:
17-44268121-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44268121G>A , CM000679.2:g.44268121G>A | GRCh38 |
| NC_000017.10:g.42345489G>A , CM000679.1:g.42345489G>A | GRCh37 |
| NC_000017.9:g.39701015G>A | NCBI36 |
| NG_007498.1:g.5014C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262418.12:c.-136C>T MANE Select | ENSP00000262418.6:n.-136C>T | |
| ENST00000262418.10:c.-136C>T | ENSP00000262418.6:n.-136C>T | |
| ENST00000399246.3:c.-136C>T | ENSP00000382190.3:n.-136C>T | |
| ENST00000497360.5:n.4C>T | ||
| ENST00000498270.1:n.21C>T | ||
| NM_000342.3:c.-136C>T | NP_000333.1:n.-136C>T | |
| XM_011525129.1:c.-136C>T | XP_011523431.1:n.-136C>T | |
| XM_011525130.1:c.-136C>T | XP_011523432.1:n.-136C>T | |
| XM_011525131.1:c.-136C>T | XP_011523433.1:n.-136C>T | |
| XM_011525129.2:c.-136C>T | XP_011523431.1:n.-136C>T | |
| NM_000342.4:c.-136C>T MANE Select | NP_000333.1:n.-136C>T |