Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.36701526T>G , CM000684.2:g.36701526T>G | GRCh38 |
| NC_000022.10:g.37097571T>G , CM000684.1:g.37097571T>G | GRCh37 |
| NC_000022.9:g.35427517T>G | NCBI36 |
| NG_031861.1:g.6120A>C | |
| NG_031861.2:g.6333A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300105.7:c.211+840A>C MANE Select | ENSP00000300105.6:n.211+840A>C | |
| ENST00000300105.6:c.211+840A>C | ENSP00000300105.6:n.211+840A>C | |
| NM_006078.3:c.211+840A>C | NP_006069.1:n.211+840A>C | |
| NM_006078.4:c.211+840A>C | NP_006069.1:n.211+840A>C | |
| NM_001379051.1:c.142+840A>C | NP_001365980.1:n.142+840A>C | |
| NM_006078.5:c.211+840A>C MANE Select | NP_006069.1:n.211+840A>C | |
| NR_166440.1:n.1387+840A>C |