Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.21754272G>T , CM000685.2:g.21754272G>T | GRCh38 |
| NC_000023.10:g.21772390G>T , CM000685.1:g.21772390G>T | GRCh37 |
| NC_000023.9:g.21682311G>T | NCBI36 |
| NG_031916.1:g.8889C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014332.3:c.19C>A MANE Select | NP_055147.1:p.Pro7Thr |
| ENST00000379494.4:c.19C>A MANE Select | ENSP00000368808.3:p.Pro7Thr |
| NM_014332.2:c.19C>A | NP_055147.1:p.Pro7Thr |
| NR_045617.1:n.250C>A | |
| NR_045617.2:n.206C>A | |
| ENST00000379494.3:c.19C>A | ENSP00000368808.3:p.Pro7Thr |
| ENST00000494525.1:n.112C>A | |
| ENST00000646008.1:c.19C>A | ENSP00000493671.1:p.Pro7Thr |