Revel Score:
ENST00000374708
0.992
ENST00000341947 (MANE Select)
0.992
ENST00000357486
0.992
ENST00000374714
0.992
ENST00000374713
0.992
ENST00000395197
0.992
ENST00000374712
0.992
ENST00000361917
0.992
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33165983C>A , CM000668.2:g.33165983C>A | GRCh38 |
| NC_000006.11:g.33133760C>A , CM000668.1:g.33133760C>A | GRCh37 |
| NC_000006.10:g.33241738C>A | NCBI36 |
| NG_011589.1:g.31486G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683572.1:n.236G>T | ||
| ENST00000341947.7:c.4430G>T MANE Select | ENSP00000339915.2:p.Gly1477Val | |
| ENST00000341947.6:c.4430G>T | ENSP00000339915.2:p.Gly1477Val | |
| ENST00000361917.5:c.4109G>T | ENSP00000355123.1:p.Gly1370Val | |
| ENST00000374708.8:c.4172G>T | ENSP00000363840.4:p.Gly1391Val | |
| ENST00000477772.1:n.273-167G>T | ||
| NM_080679.2:c.4109G>T | NP_542410.2:p.Gly1370Val | |
| NM_080680.2:c.4430G>T | NP_542411.2:p.Gly1477Val | |
| NM_080681.2:c.4172G>T | NP_542412.2:p.Gly1391Val | |
| XM_011514298.1:c.3584G>T | XP_011512600.1:p.Gly1195Val | |
| XM_011514299.1:c.3716G>T | XP_011512601.1:p.Gly1239Val | |
| XM_011514300.1:c.3536G>T | XP_011512602.1:p.Gly1179Val | |
| XM_011514301.1:c.3473G>T | XP_011512603.1:p.Gly1158Val | |
| XM_011514302.1:c.3317G>T | XP_011512604.1:p.Gly1106Val | |
| XM_011514299.2:c.3716G>T | XP_011512601.1:p.Gly1239Val | |
| XM_011514300.2:c.3536G>T | XP_011512602.1:p.Gly1179Val | |
| XM_011514302.2:c.3317G>T | XP_011512604.1:p.Gly1106Val | |
| XM_017010250.1:c.4430G>T | XP_016865739.1:p.Gly1477Val | |
| XM_017010251.2:c.3248G>T | XP_016865740.1:p.Gly1083Val | |
| NM_080680.3:c.4430G>T MANE Select | NP_542411.2:p.Gly1477Val | |
| NM_080681.3:c.4172G>T | NP_542412.2:p.Gly1391Val | |
| NM_080679.3:c.4109G>T | NP_542410.2:p.Gly1370Val |