Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.128946779A>C , CM000671.2:g.128946779A>C | GRCh38 |
| NC_000009.11:g.131709058A>C , CM000671.1:g.131709058A>C | GRCh37 |
| NC_000009.10:g.130748879A>C | NCBI36 |
| NG_017009.1:g.5955T>G , LRG_744:g.5955T>G | |
| NG_033111.1:g.4087A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372586.4:c.525T>G MANE Select | ENSP00000361667.3:p.Val175= | |
| ENST00000372586.3:c.525T>G | ENSP00000361667.3:p.Val175= | |
| ENST00000482796.1:c.39-2410A>C | ENSP00000417556.2:n.39-2410A>C | |
| NM_014908.3:c.525T>G , LRG_744t1:c.525T>G | NP_055723.1:p.Val175= | |
| NM_014908.4:c.525T>G MANE Select | NP_055723.1:p.Val175= |