Revel Score:
ENST00000241453 (MANE Select)
0.930
ENST00000380982
0.930
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.28018484A>G , CM000675.2:g.28018484A>G | GRCh38 |
| NC_000013.10:g.28592621A>G , CM000675.1:g.28592621A>G | GRCh37 |
| NC_000013.9:g.27490621A>G | NCBI36 |
| NG_007066.1:g.87085T>C , LRG_457:g.87085T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000241453.12:c.2524T>C MANE Select | ENSP00000241453.7:p.Tyr842His | |
| ENST00000241453.11:c.2524T>C | ENSP00000241453.7:p.Tyr842His | |
| ENST00000380987.2:c.*436T>C | ENSP00000370374.2:n.*436T>C | |
| NM_004119.2:c.2524T>C , LRG_457t1:c.2524T>C | NP_004110.2:p.Tyr842His | |
| NR_130706.1:n.2738T>C | ||
| XM_011535015.1:c.2467T>C | XP_011533317.1:p.Tyr823His | |
| XM_011535016.1:c.1999T>C | XP_011533318.1:p.Tyr667His | |
| XM_011535017.1:c.1999T>C | XP_011533319.1:p.Tyr667His | |
| XM_011535018.1:c.1999T>C | XP_011533320.1:p.Tyr667His | |
| XM_011535015.2:c.2467T>C | XP_011533317.1:p.Tyr823His | |
| XM_011535017.2:c.1999T>C | XP_011533319.1:p.Tyr667His | |
| XM_011535018.2:c.1999T>C | XP_011533320.1:p.Tyr667His | |
| XM_017020486.1:c.2308T>C | XP_016875975.1:p.Tyr770His | |
| XM_017020487.1:c.1999T>C | XP_016875976.1:p.Tyr667His | |
| XM_017020488.1:c.1645T>C | XP_016875977.1:p.Tyr549His | |
| XM_017020489.1:c.1627T>C | XP_016875978.1:p.Tyr543His | |
| NM_004119.3:c.2524T>C MANE Select | NP_004110.2:p.Tyr842His | |
| NR_130706.2:n.2722T>C |