ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154349454G>A , CM000685.2:g.154349454G>A | GRCh38 |
| NC_000023.10:g.153577822G>A , CM000685.1:g.153577822G>A | GRCh37 |
| NC_000023.9:g.153231016G>A | NCBI36 |
| NG_011506.1:g.30185C>T | |
| NG_011506.2:g.30185C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360319.9:c.7640C>T | ENSP00000353467.4:p.Ala2547Val | |
| ENST00000369850.10:c.7664C>T MANE Select | ENSP00000358866.3:p.Ala2555Val | |
| ENST00000369856.8:c.7583C>T | ENSP00000358872.4:p.Ala2528Val | |
| ENST00000422373.6:c.4445C>T | ENSP00000416926.2:p.Ala1482Val | |
| ENST00000610817.5:c.7721C>T | ENSP00000480593.2:n.7721C>T | |
| ENST00000673639.2:c.280-764C>T | ||
| ENST00000676696.1:c.7943C>T | ENSP00000503392.1:n.7943C>T | |
| ENST00000678304.1:n.3382C>T | ||
| ENST00000344736.8:c.7544C>T | ENSP00000358863.3:p.Ala2515Val | |
| ENST00000360319.8:c.7640C>T | ENSP00000353467.4:p.Ala2547Val | |
| ENST00000369850.7:c.7664C>T | ENSP00000358866.3:p.Ala2555Val | |
| ENST00000369856.7:c.7583C>T | ENSP00000358872.4:p.Ala2528Val | |
| ENST00000420627.5:c.7620C>T | ENSP00000408921.1:n.7620C>T | |
| ENST00000422373.5:c.7640C>T | ENSP00000416926.1:p.Ala2547Val | |
| ENST00000462590.1:n.819C>T | ||
| ENST00000490936.5:n.4893C>T | ||
| ENST00000498411.1:n.68-624C>T | ||
| ENST00000498491.5:n.705C>T | ||
| ENST00000610817.4:c.6668C>T | ENSP00000480593.1:p.Ala2223Val | |
| NM_001110556.1:c.7664C>T | NP_001104026.1:p.Ala2555Val | |
| NM_001456.3:c.7640C>T | NP_001447.2:p.Ala2547Val | |
| XM_011531127.1:c.7568C>T | XP_011529429.1:p.Ala2523Val | |
| XM_011531128.1:c.7544C>T | XP_011529430.1:p.Ala2515Val | |
| XM_011531129.1:c.7490C>T | XP_011529431.1:p.Ala2497Val | |
| XM_011531130.1:c.7466C>T | XP_011529432.1:p.Ala2489Val | |
| XM_011531131.1:c.7463C>T | XP_011529433.1:p.Ala2488Val | |
| NM_001110556.2:c.7664C>T MANE Select | NP_001104026.1:p.Ala2555Val | |
| NM_001456.4:c.7640C>T | NP_001447.2:p.Ala2547Val |