Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.73201061T>C , CM000679.2:g.73201061T>C | GRCh38 |
| NC_000017.10:g.71197200T>C , CM000679.1:g.71197200T>C | GRCh37 |
| NC_000017.9:g.68708795T>C | NCBI36 |
| NG_008971.1:g.13028T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_018714.3:c.1282-48T>C MANE Select | NP_061184.1:n.1282-48T>C |
| ENST00000299886.9:c.1282-48T>C MANE Select | ENSP00000299886.4:n.1282-48T>C |
| NM_018714.2:c.1282-48T>C | NP_061184.1:n.1282-48T>C |
| ENST00000299886.8:c.1282-48T>C | ENSP00000299886.4:n.1282-48T>C |
| ENST00000438720.7:c.1280-48T>C | |
| ENST00000618996.4:c.1282-48T>C | ENSP00000479450.1:n.1282-48T>C |