Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.110164974A>G , CM000675.2:g.110164974A>G | GRCh38 |
| NC_000013.10:g.110817321A>G , CM000675.1:g.110817321A>G | GRCh37 |
| NC_000013.9:g.109615322A>G | NCBI36 |
| NG_011544.2:g.147176T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001845.6:c.4038T>C MANE Select | NP_001836.3:p.Pro1346= |
| ENST00000375820.10:c.4038T>C MANE Select | ENSP00000364979.4:p.Pro1346= |
| NM_001845.5:c.4038T>C | NP_001836.3:p.Pro1346= |
| ENST00000375820.8:c.4038T>C | ENSP00000364979.4:p.Pro1346= |
| ENST00000649720.1:n.206T>C | |
| ENST00000650424.1:c.194T>C | |
| XM_011521048.1:c.3846T>C | XP_011519350.1:p.Pro1282= |
| XM_011521048.2:c.3846T>C | XP_011519350.1:p.Pro1282= |