Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.74713504A>C , CM000667.2:g.74713504A>C | GRCh38 |
| NC_000005.9:g.74009329A>C , CM000667.1:g.74009329A>C | GRCh37 |
| NC_000005.8:g.74045085A>C | NCBI36 |
| NG_009770.1:g.33361A>C | |
| NG_009770.2:g.78482A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000521.4:c.772-2A>C MANE Select | NP_000512.2:n.772-2A>C |
| ENST00000261416.12:c.772-2A>C MANE Select | ENSP00000261416.7:n.772-2A>C |
| NM_000521.3:c.772-2A>C | NP_000512.1:n.772-2A>C |
| NM_001292004.1:c.97-2A>C | NP_001278933.1:n.97-2A>C |
| NM_001292004.2:c.97-2A>C | NP_001278933.1:n.97-2A>C |
| ENST00000261416.11:c.772-2A>C | ENSP00000261416.7:n.772-2A>C |
| ENST00000511181.5:c.97-2A>C | ENSP00000426285.1:n.97-2A>C |