Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.123252440A>G , CM000668.2:g.123252440A>G | GRCh38 |
| NC_000006.11:g.123573585A>G , CM000668.1:g.123573585A>G | GRCh37 |
| NC_000006.10:g.123615284A>G | NCBI36 |
| NG_030438.1:g.389654T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006073.4:c.1952-5T>C MANE Select | NP_006064.2:n.1952-5T>C |
| ENST00000334268.9:c.1952-5T>C MANE Select | ENSP00000333984.5:n.1952-5T>C |
| NM_006073.3:c.1952-5T>C | NP_006064.2:n.1952-5T>C |
| ENST00000334268.8:c.1952-5T>C | ENSP00000333984.5:n.1952-5T>C |
| XM_011535382.1:c.1871-5T>C | XP_011533684.1:n.1871-5T>C |