Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29226913C>A , CM000664.2:g.29226913C>A | GRCh38 |
| NC_000002.11:g.29449779C>A , CM000664.1:g.29449779C>A | GRCh37 |
| NC_000002.10:g.29303283C>A | NCBI36 |
| NG_009445.1:g.699654G>T , LRG_488:g.699654G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004304.5:c.3067+9G>T MANE Select | NP_004295.2:n.3067+9G>T |
| ENST00000389048.8:c.3067+9G>T MANE Select | ENSP00000373700.3:n.3067+9G>T |
| NM_004304.4:c.3067+9G>T | NP_004295.2:n.3067+9G>T |
| ENST00000389048.7:c.3067+9G>T | ENSP00000373700.3:n.3067+9G>T |
| ENST00000431873.6:c.233+9G>T | |
| ENST00000618119.4:c.1936+9G>T | ENSP00000482733.1:n.1936+9G>T |
| XM_024452778.1:c.220+9G>T | XP_024308546.1:n.220+9G>T |
| XR_001738688.2:n.3923+9G>T |