Revel Score:
ENST00000374708
0.978
ENST00000341947 (MANE Select)
0.978
ENST00000357486
0.978
ENST00000374714
0.978
ENST00000374713
0.978
ENST00000395197
0.978
ENST00000374712
0.978
ENST00000361917
0.978
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33166736C>T , CM000668.2:g.33166736C>T | GRCh38 |
| NC_000006.11:g.33134513C>T , CM000668.1:g.33134513C>T | GRCh37 |
| NC_000006.10:g.33242491C>T | NCBI36 |
| NG_011589.1:g.30733G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683572.1:n.234+55G>A | ||
| ENST00000341947.7:c.4322G>A MANE Select | ENSP00000339915.2:p.Gly1441Glu | |
| ENST00000341947.6:c.4322G>A | ENSP00000339915.2:p.Gly1441Glu | |
| ENST00000361917.5:c.4001G>A | ENSP00000355123.1:p.Gly1334Glu | |
| ENST00000374708.8:c.4064G>A | ENSP00000363840.4:p.Gly1355Glu | |
| ENST00000477772.1:n.273-920G>A | ||
| NM_080679.2:c.4001G>A | NP_542410.2:p.Gly1334Glu | |
| NM_080680.2:c.4322G>A | NP_542411.2:p.Gly1441Glu | |
| NM_080681.2:c.4064G>A | NP_542412.2:p.Gly1355Glu | |
| XM_011514298.1:c.3476G>A | XP_011512600.1:p.Gly1159Glu | |
| XM_011514299.1:c.3608G>A | XP_011512601.1:p.Gly1203Glu | |
| XM_011514300.1:c.3428G>A | XP_011512602.1:p.Gly1143Glu | |
| XM_011514301.1:c.3365G>A | XP_011512603.1:p.Gly1122Glu | |
| XM_011514302.1:c.3209G>A | XP_011512604.1:p.Gly1070Glu | |
| XM_011514299.2:c.3608G>A | XP_011512601.1:p.Gly1203Glu | |
| XM_011514300.2:c.3428G>A | XP_011512602.1:p.Gly1143Glu | |
| XM_011514302.2:c.3209G>A | XP_011512604.1:p.Gly1070Glu | |
| XM_017010250.1:c.4322G>A | XP_016865739.1:p.Gly1441Glu | |
| XM_017010251.2:c.3140G>A | XP_016865740.1:p.Gly1047Glu | |
| NM_080680.3:c.4322G>A MANE Select | NP_542411.2:p.Gly1441Glu | |
| NM_080681.3:c.4064G>A | NP_542412.2:p.Gly1355Glu | |
| NM_080679.3:c.4001G>A | NP_542410.2:p.Gly1334Glu |