gnomAD v2:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.203959601A>G , CM000664.2:g.203959601A>G | GRCh38 |
| NC_000002.11:g.204824324A>G , CM000664.1:g.204824324A>G | GRCh37 |
| NC_000002.10:g.204532569A>G | NCBI36 |
| NG_011586.1:g.27822A>G , LRG_65:g.27822A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000316386.11:c.*2A>G MANE Select | ENSP00000319476.6:n.*2A>G | |
| ENST00000316386.10:c.*2A>G | ENSP00000319476.6:n.*2A>G | |
| ENST00000435193.1:c.*10A>G | ENSP00000415951.1:n.*10A>G | |
| NM_012092.3:c.*2A>G , LRG_65t1:c.*2A>G | NP_036224.1:n.*2A>G | |
| XM_011511028.1:c.*103A>G | XP_011509330.1:n.*103A>G | |
| XM_011511029.1:c.*2A>G | XP_011509331.1:n.*2A>G | |
| XM_011511030.1:c.*103A>G | XP_011509332.1:n.*103A>G | |
| XM_011511031.1:c.*103A>G | XP_011509333.1:n.*103A>G | |
| NM_012092.4:c.*2A>G MANE Select | NP_036224.1:n.*2A>G |