Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29227083A>G , CM000664.2:g.29227083A>G | GRCh38 |
| NC_000002.11:g.29449949A>G , CM000664.1:g.29449949A>G | GRCh37 |
| NC_000002.10:g.29303453A>G | NCBI36 |
| NG_009445.1:g.699484T>C , LRG_488:g.699484T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389048.8:c.2915-9T>C MANE Select | ENSP00000373700.3:n.2915-9T>C | |
| ENST00000431873.6:c.81-9T>C | ||
| ENST00000389048.7:c.2915-9T>C | ENSP00000373700.3:n.2915-9T>C | |
| ENST00000618119.4:c.1784-9T>C | ENSP00000482733.1:n.1784-9T>C | |
| NM_004304.4:c.2915-9T>C | NP_004295.2:n.2915-9T>C | |
| XM_024452778.1:c.68-9T>C | XP_024308546.1:n.68-9T>C | |
| XR_001738688.2:n.3771-9T>C | ||
| NM_004304.5:c.2915-9T>C MANE Select | NP_004295.2:n.2915-9T>C |