Revel Score:
ENST00000373790
0.602
ENST00000449580
0.602
ENST00000423759 (MANE Select)
0.602
ENST00000276072
0.602
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.71387393T>C , CM000685.2:g.71387393T>C | GRCh38 |
| NC_000023.10:g.70607243T>C , CM000685.1:g.70607243T>C | GRCh37 |
| NC_000023.9:g.70523968T>C | NCBI36 |
| NG_012771.2:g.26130T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000276072.9:c.1645T>C | ENSP00000276072.5:p.Cys549Arg | |
| ENST00000683202.1:c.2359T>C | ENSP00000507781.1:p.Cys787Arg | |
| ENST00000683668.1:c.1645T>C | ENSP00000507280.1:p.Cys549Arg | |
| ENST00000683715.1:c.1940T>C | ||
| ENST00000683782.1:c.2359T>C | ENSP00000506996.1:p.Cys787Arg | |
| ENST00000373790.9:c.2296T>C | ENSP00000362895.5:p.Cys766Arg | |
| ENST00000423759.6:c.2359T>C MANE Select | ENSP00000406549.2:p.Cys787Arg | |
| ENST00000276072.7:c.2419T>C | ENSP00000276072.3:p.Cys807Arg | |
| ENST00000373790.8:c.2356T>C | ENSP00000362895.4:p.Cys786Arg | |
| ENST00000423759.5:c.2419T>C | ENSP00000406549.1:p.Cys807Arg | |
| ENST00000472567.1:n.308T>C | ||
| ENST00000478305.1:n.84T>C | ||
| NM_001286074.1:c.2419T>C | NP_001273003.1:p.Cys807Arg | |
| NM_004606.4:c.2419T>C | NP_004597.2:p.Cys807Arg | |
| NM_138923.3:c.2356T>C | NP_620278.1:p.Cys786Arg | |
| NR_104387.1:n.2495T>C | ||
| NR_104388.1:n.2495T>C | ||
| NR_104389.1:n.2495T>C | ||
| NR_104390.1:n.2495T>C | ||
| NR_104391.1:n.2495T>C | ||
| NR_104392.1:n.2495T>C | ||
| NR_104393.1:n.2495T>C | ||
| NR_104394.1:n.2495T>C | ||
| NR_104395.1:n.2495T>C | ||
| XM_005262295.1:c.2419T>C | XP_005262352.1:p.Cys807Arg | |
| XM_005262296.1:c.2419T>C | XP_005262353.1:p.Cys807Arg | |
| XM_005262297.3:c.2356T>C | XP_005262354.1:p.Cys786Arg | |
| XM_005262300.1:c.2419T>C | XP_005262357.1:p.Cys807Arg | |
| XM_006724682.2:c.2038T>C | XP_006724745.1:p.Cys680Arg | |
| XM_011531016.1:c.2419T>C | XP_011529318.1:p.Cys807Arg | |
| XR_938407.1:n.2429T>C | ||
| XM_005262297.4:c.2356T>C | XP_005262354.1:p.Cys786Arg | |
| XM_005262300.2:c.2419T>C | XP_005262357.1:p.Cys807Arg | |
| XM_024452429.1:c.2038T>C | XP_024308197.1:p.Cys680Arg | |
| XM_024452430.1:c.2419T>C | XP_024308198.1:p.Cys807Arg | |
| NM_001286074.2:c.2359T>C | NP_001273003.2:p.Cys787Arg | |
| NM_004606.5:c.2359T>C MANE Select | NP_004597.3:p.Cys787Arg | |
| NM_138923.4:c.2296T>C | NP_620278.2:p.Cys766Arg | |
| NR_104387.2:n.2377T>C | ||
| NR_104388.2:n.2377T>C | ||
| NR_104389.2:n.2377T>C | ||
| NR_104390.2:n.2377T>C | ||
| NR_104391.2:n.2377T>C | ||
| NR_104392.2:n.2377T>C | ||
| NR_104393.2:n.2377T>C | ||
| NR_104394.2:n.2377T>C | ||
| NR_104395.2:n.2377T>C |