Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.59116997A>C , CM000677.2:g.59116997A>C | GRCh38 |
| NC_000015.9:g.59409196A>C , CM000677.1:g.59409196A>C | GRCh37 |
| NC_000015.8:g.57196488A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004701.4:c.834+71A>C MANE Select | NP_004692.1:n.834+71A>C |
| ENST00000288207.7:c.834+71A>C MANE Select | ENSP00000288207.2:n.834+71A>C |
| NM_004701.3:c.834+71A>C | NP_004692.1:n.834+71A>C |
| ENST00000288207.6:c.834+71A>C | ENSP00000288207.2:n.834+71A>C |
| ENST00000559301.1:n.160+71A>C | |
| ENST00000559622.5:c.591+71A>C | ENSP00000453685.1:n.591+71A>C |
| ENST00000621385.1:c.834+71A>C | ENSP00000480809.1:n.834+71A>C |