MyVariant.info:
GRCh38
chr17:g.64377836C>T
gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.64377836C>T , CM000679.2:g.64377836C>T | GRCh38 |
| NG_047009.1:g.40966G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000563924.6:c.373G>A MANE Select | ENSP00000457421.1:p.Val125Met | |
| ENST00000561739.5:n.402G>A | ||
| ENST00000563523.5:c.358G>A | ENSP00000455931.1:p.Val120Met | |
| ENST00000563924.5:c.373G>A | ENSP00000457421.1:p.Val125Met | |
| ENST00000564866.5:c.373G>A | ENSP00000455663.1:p.Val125Met | |
| ENST00000566616.1:n.352G>A | ||
| ENST00000569530.1:n.359G>A | ||
| ENST00000569967.1:c.373G>A | ENSP00000457218.1:p.Val125Met | |
| NM_000442.4:c.373G>A | NP_000433.4:p.Val125Met | |
| XM_005276880.1:c.373G>A | XP_005276937.1:p.Val125Met | |
| XM_005276881.1:c.373G>A | XP_005276938.1:p.Val125Met | |
| XM_005276882.1:c.373G>A | XP_005276939.1:p.Val125Met | |
| XM_005276883.1:c.373G>A | XP_005276940.1:p.Val125Met | |
| XM_011524889.1:c.373G>A | XP_011523191.1:p.Val125Met | |
| XM_011524890.1:c.373G>A | XP_011523192.1:p.Val125Met | |
| XM_005276883.2:c.373G>A | XP_005276940.1:p.Val125Met | |
| XM_011524889.2:c.373G>A | XP_011523191.1:p.Val125Met | |
| XM_017024738.1:c.373G>A | XP_016880227.1:p.Val125Met | |
| XM_017024739.1:c.373G>A | XP_016880228.1:p.Val125Met | |
| XM_017024740.1:c.373G>A | XP_016880229.1:p.Val125Met | |
| XM_017024741.1:c.373G>A | XP_016880230.1:p.Val125Met | |
| NM_000442.5:c.373G>A MANE Select | NP_000433.4:p.Val125Met |