Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.74696740G>C , CM000667.2:g.74696740G>C | GRCh38 |
| NC_000005.9:g.73992565G>C , CM000667.1:g.73992565G>C | GRCh37 |
| NC_000005.8:g.74028321G>C | NCBI36 |
| NG_009770.1:g.16597G>C | |
| NG_009770.2:g.61718G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000521.4:c.558+1G>C MANE Select | NP_000512.2:n.558+1G>C |
| ENST00000261416.12:c.558+1G>C MANE Select | ENSP00000261416.7:n.558+1G>C |
| NM_000521.3:c.558+1G>C | NP_000512.1:n.558+1G>C |
| NM_001292004.1:c.-118+1G>C | NP_001278933.1:n.-118+1G>C |
| NM_001292004.2:c.-118+1G>C | NP_001278933.1:n.-118+1G>C |
| ENST00000261416.11:c.558+1G>C | ENSP00000261416.7:n.558+1G>C |
| ENST00000510820.1:n.277+1G>C | |
| ENST00000511181.5:c.-118+1G>C | ENSP00000426285.1:n.-118+1G>C |
| ENST00000513079.5:n.623+1G>C |