dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.34256892C>G , CM000679.2:g.34256892C>G | GRCh38 |
| NC_000017.10:g.32583911C>G , CM000679.1:g.32583911C>G | GRCh37 |
| NC_000017.9:g.29608024C>G | NCBI36 |
| NG_012123.1:g.6616C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000580907.6:c.*549C>G | ENSP00000462156.1:n.*549C>G | |
| ENST00000624362.2:n.1608C>G | ||
| ENST00000225831.4:c.*65C>G MANE Select | ENSP00000225831.4:n.*65C>G | |
| ENST00000582017.1:n.685C>G | ||
| NM_002982.3:c.*65C>G | NP_002973.1:n.*65C>G | |
| NM_002982.4:c.*65C>G MANE Select | NP_002973.1:n.*65C>G |