Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.119222275A>G , CM000671.2:g.119222275A>G | GRCh38 |
| NC_000009.11:g.121984553A>G , CM000671.1:g.121984553A>G | GRCh37 |
| NC_000009.10:g.121024374A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014618.3:c.686-8120T>C MANE Select | NP_055433.2:n.686-8120T>C |
| ENST00000265922.8:c.686-8120T>C MANE Select | ENSP00000265922.2:n.686-8120T>C |
| NM_014618.2:c.686-8120T>C | NP_055433.2:n.686-8120T>C |
| ENST00000265922.7:c.686-8120T>C | ENSP00000265922.2:n.686-8120T>C |
| ENST00000373964.2:c.686-8120T>C | ENSP00000363075.1:n.686-8120T>C |