Linked Data
dbSNP Id:
rs775854630
ExAC:
7:138391368 C / A
gnomAD v2:
7-138391368-C-A
gnomAD v4:
7-138706623-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.138706623C>A , CM000669.2:g.138706623C>A | GRCh38 |
| NC_000007.13:g.138391368C>A , CM000669.1:g.138391368C>A | GRCh37 |
| NC_000007.12:g.138041908C>A | NCBI36 |
| NG_008145.1:g.96574G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000310018.7:c.*1G>T MANE Select | ENSP00000308122.2:n.*1G>T | |
| ENST00000478480.2:c.*89G>T | ENSP00000495261.1:n.*89G>T | |
| ENST00000644341.1:c.*1G>T | ENSP00000495642.1:n.*1G>T | |
| ENST00000645515.1:c.*1G>T | ENSP00000496421.1:n.*1G>T | |
| ENST00000647427.1:c.1299G>T | ENSP00000496259.1:n.1299G>T | |
| ENST00000310018.6:c.*1G>T | ENSP00000308122.2:n.*1G>T | |
| ENST00000353492.4:c.*1G>T | ENSP00000253856.6:n.*1G>T | |
| ENST00000393054.5:c.*1G>T | ENSP00000376774.1:n.*1G>T | |
| NM_020632.2:c.*1G>T | NP_065683.2:n.*1G>T | |
| NM_130840.2:c.*1G>T | NP_570855.2:n.*1G>T | |
| NM_130841.2:c.*1G>T | NP_570856.2:n.*1G>T | |
| XM_005250393.1:c.*1G>T | XP_005250450.1:n.*1G>T | |
| XM_005250394.2:c.*1G>T | XP_005250451.1:n.*1G>T | |
| XM_005250394.3:c.*1G>T | XP_005250451.1:n.*1G>T | |
| NM_020632.3:c.*1G>T MANE Select | NP_065683.2:n.*1G>T | |
| NM_130840.3:c.*1G>T | NP_570855.2:n.*1G>T | |
| NM_130841.3:c.*1G>T | NP_570856.2:n.*1G>T |