Revel Score:
ENST00000376215 (MANE Select)
0.635
ENST00000396343
0.635
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.26746335T>G , CM000672.2:g.26746335T>G | GRCh38 |
| NC_000010.10:g.27035264T>G , CM000672.1:g.27035264T>G | GRCh37 |
| NC_000010.9:g.27075270T>G | NCBI36 |
| NG_008972.1:g.53670T>G | |
| NG_030025.1:g.119753A>C | |
| NG_008972.2:g.53670T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376215.10:c.1110T>G MANE Select | ENSP00000365388.5:p.Ser370Arg | |
| ENST00000376215.9:c.1110T>G | ENSP00000365388.5:p.Ser370Arg | |
| ENST00000470978.1:n.352T>G | ||
| ENST00000491711.5:c.691T>G | ||
| NM_014317.3:c.1110T>G | NP_055132.2:p.Ser370Arg | |
| XM_005252439.2:c.600T>G | XP_005252496.1:p.Ser200Arg | |
| XM_011519437.1:c.741T>G | XP_011517739.1:p.Ser247Arg | |
| XR_428636.2:n.1402T>G | ||
| NM_001321978.1:c.919T>G | NP_001308907.1:p.Ter307Gly | |
| NM_001321979.1:c.600T>G | NP_001308908.1:p.Ser200Arg | |
| NM_014317.4:c.1110T>G | NP_055132.2:p.Ser370Arg | |
| XM_011519437.3:c.741T>G | XP_011517739.1:p.Ser247Arg | |
| XM_017016011.2:c.789T>G | XP_016871500.1:p.Ser263Arg | |
| XM_024447923.1:c.600T>G | XP_024303691.1:p.Ser200Arg | |
| XR_428636.4:n.1402T>G | ||
| NM_014317.5:c.1110T>G MANE Select | NP_055132.2:p.Ser370Arg | |
| NM_001321978.2:c.919T>G | NP_001308907.1:p.Ter307Gly | |
| NM_001321979.2:c.600T>G | NP_001308908.1:p.Ser200Arg |