dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.20216082G>C , CM000669.2:g.20216082G>C | GRCh38 |
| NC_000007.13:g.20255705G>C , CM000669.1:g.20255705G>C | GRCh37 |
| NC_000007.12:g.20222230G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400331.10:c.-218+1217C>G (MACC1) MANE Select | ENSP00000383185.3:n.-218+1217C>G | |
| ENST00000332878.8:c.-9+1217C>G (MACC1) | ENSP00000328410.4:n.-9+1217C>G | |
| ENST00000400331.9:c.-218+1217C>G (MACC1) | ENSP00000383185.3:n.-218+1217C>G | |
| ENST00000471019.1:n.59+1217C>G (MACC1) | ||
| ENST00000483317.1:n.54+1217C>G (MACC1) | ||
| NM_182762.3:c.-218+1217C>G (MACC1) | NP_877439.3:n.-218+1217C>G | |
| XR_108744.4:n.2088G>C (GIRGL) | ||
| NM_182762.4:c.-218+1217C>G (MACC1) MANE Select | NP_877439.3:n.-218+1217C>G |