Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.5007544T>C , CM000679.2:g.5007544T>C | GRCh38 |
| NC_000017.10:g.4910839T>C , CM000679.1:g.4910839T>C | GRCh37 |
| NC_000017.9:g.4851563T>C | NCBI36 |
| NG_034137.1:g.14597T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006612.6:c.1491+2T>C MANE Select | NP_006603.2:n.1491+2T>C |
| ENST00000320785.10:c.1491+2T>C MANE Select | ENSP00000320821.5:n.1491+2T>C |
| NM_006612.5:c.1491+2T>C | NP_006603.2:n.1491+2T>C |
| ENST00000320785.9:c.1491+2T>C | ENSP00000320821.5:n.1491+2T>C |
| ENST00000572959.1:n.78+2T>C | |
| XM_005256424.1:c.1491+2T>C | XP_005256481.1:n.1491+2T>C |
| XM_005256424.2:c.1491+2T>C | XP_005256481.1:n.1491+2T>C |