Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186194470T>C , CM000666.2:g.186194470T>C | GRCh38 |
| NC_000004.11:g.187115624T>C , CM000666.1:g.187115624T>C | GRCh37 |
| NC_000004.10:g.187352618T>C | NCBI36 |
| NG_007965.1:g.7951T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_207352.4:c.215-30T>C MANE Select | NP_997235.3:n.215-30T>C |
| ENST00000378802.5:c.215-30T>C MANE Select | ENSP00000368079.4:n.215-30T>C |
| NM_207352.3:c.215-30T>C | NP_997235.3:n.215-30T>C |
| ENST00000378802.4:c.215-30T>C | ENSP00000368079.4:n.215-30T>C |
| XM_005262935.2:c.215-30T>C | XP_005262992.1:n.215-30T>C |
| XM_005262935.4:c.215-30T>C | XP_005262992.1:n.215-30T>C |
| XM_017008037.1:c.-96-30T>C | XP_016863526.1:n.-96-30T>C |