dbSNP:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.38703061G>C , CM000668.2:g.38703061G>C | GRCh38 |
| NC_000006.11:g.38670837G>C , CM000668.1:g.38670837G>C | GRCh37 |
| NC_000006.10:g.38778815G>C | NCBI36 |
| NG_012074.1:g.5116C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373365.5:c.-7C>G MANE Select | ENSP00000362463.3:n.-7C>G | |
| ENST00000373365.4:c.-7C>G | ENSP00000362463.3:n.-7C>G | |
| NM_006708.2:c.-7C>G | NP_006699.2:n.-7C>G | |
| NM_006708.3:c.-7C>G MANE Select | NP_006699.2:n.-7C>G |