Revel Score:
ENST00000519449
0.417
ENST00000341084 (MANE Select)
0.417
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.100261561T>C , CM000670.2:g.100261561T>C | GRCh38 |
| NC_000008.10:g.101273789T>C , CM000670.1:g.101273789T>C | GRCh37 |
| NC_000008.9:g.101342965T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341084.7:c.1663A>G MANE Select | ENSP00000342667.2:p.Met555Val | |
| ENST00000341084.6:c.1663A>G | ENSP00000342667.2:p.Met555Val | |
| ENST00000519449.5:c.1663A>G | ENSP00000428968.1:p.Met555Val | |
| ENST00000523255.5:n.446A>G | ||
| ENST00000523644.1:n.48-1564A>G | ||
| ENST00000616528.1:c.1663A>G | ENSP00000480369.1:p.Met555Val | |
| NM_001280539.1:c.1663A>G | NP_001267468.1:p.Met555Val | |
| NM_015435.4:c.1663A>G | NP_056250.3:p.Met555Val | |
| NM_183419.3:c.1663A>G | NP_904355.1:p.Met555Val | |
| XM_005250853.2:c.1663A>G | XP_005250910.1:p.Met555Val | |
| XM_011516956.1:c.1501A>G | XP_011515258.1:p.Met501Val | |
| XR_928315.1:n.1847-1564A>G | ||
| XR_928316.1:n.1685-1564A>G | ||
| NM_001353837.1:c.1663A>G | NP_001340766.1:p.Met555Val | |
| NM_001353838.1:c.1663A>G | NP_001340767.1:p.Met555Val | |
| XM_011516956.3:c.1501A>G | XP_011515258.1:p.Met501Val | |
| XM_017013302.1:c.1663A>G | XP_016868791.1:p.Met555Val | |
| XM_017013303.2:c.1663A>G | XP_016868792.1:p.Met555Val | |
| XM_017013304.1:c.1501A>G | XP_016868793.1:p.Met501Val | |
| XM_024447118.1:c.1663A>G | XP_024302886.1:p.Met555Val | |
| XM_024447119.1:c.1663A>G | XP_024302887.1:p.Met555Val | |
| XM_024447120.1:c.733A>G | XP_024302888.1:p.Met245Val | |
| XR_928315.3:n.1792-1564A>G | ||
| NM_183419.4:c.1663A>G MANE Select | NP_904355.1:p.Met555Val | |
| NM_001280539.2:c.1663A>G | NP_001267468.1:p.Met555Val | |
| NM_001353838.2:c.1663A>G | NP_001340767.1:p.Met555Val | |
| NM_001353837.2:c.1663A>G | NP_001340766.1:p.Met555Val | |
| NM_015435.5:c.1663A>G | NP_056250.3:p.Met555Val |