Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.57562877G>T , CM000682.2:g.57562877G>T | GRCh38 |
| NC_000020.10:g.56137933G>T , CM000682.1:g.56137933G>T | GRCh37 |
| NC_000020.9:g.55571339G>T | NCBI36 |
| NG_008205.1:g.6797G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319441.6:c.588G>T MANE Select | ENSP00000319814.4:p.Val196= | |
| ENST00000319441.5:c.588G>T | ENSP00000319814.4:p.Val196= | |
| ENST00000467047.1:n.1798G>T | ||
| ENST00000470051.1:n.44G>T | ||
| ENST00000498194.1:n.530G>T | ||
| NM_002591.3:c.588G>T | NP_002582.3:p.Val196= | |
| XM_011528839.1:c.192G>T | XP_011527141.1:p.Val64= | |
| XM_024451888.1:c.192G>T | XP_024307656.1:p.Val64= | |
| NM_002591.4:c.588G>T MANE Select | NP_002582.3:p.Val196= |