Linked Data
dbSNP Id:
rs1239592225
gnomAD v2:
6-111544044-A-G
gnomAD v3:
6-111222841-A-G
gnomAD v4:
6-111222841-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.111222841A>G , CM000668.2:g.111222841A>G | GRCh38 |
| NC_000006.11:g.111544044A>G , CM000668.1:g.111544044A>G | GRCh37 |
| NC_000006.10:g.111650737A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368851.10:c.*606A>G MANE Select | ENSP00000357844.4:n.*606A>G | |
| ENST00000368850.4:c.*606A>G | ENSP00000357843.1:n.*606A>G | |
| ENST00000368851.9:c.*606A>G | ENSP00000357844.4:n.*606A>G | |
| NM_018593.4:c.*606A>G | NP_061063.2:n.*606A>G | |
| XM_005266818.2:c.*560A>G | XP_005266875.1:n.*560A>G | |
| XM_017010237.1:c.*606A>G | XP_016865726.1:n.*606A>G | |
| XR_001743158.1:n.2436A>G | ||
| NM_018593.5:c.*606A>G MANE Select | NP_061063.2:n.*606A>G |