Revel Score:
ENST00000374708
0.095
ENST00000341947 (MANE Select)
0.095
ENST00000357486
0.095
ENST00000374714
0.095
ENST00000374713
0.095
ENST00000395197
0.095
ENST00000374712
0.095
ENST00000361917
0.095
ENST00000395196
0.095
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33164854G>C , CM000668.2:g.33164854G>C | GRCh38 |
| NC_000006.11:g.33132631G>C , CM000668.1:g.33132631G>C | GRCh37 |
| NC_000006.10:g.33240609G>C | NCBI36 |
| NG_011589.1:g.32615C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683572.1:n.667C>G | ||
| ENST00000341947.7:c.4861C>G MANE Select | ENSP00000339915.2:p.Gln1621Glu | |
| ENST00000341947.6:c.4861C>G | ENSP00000339915.2:p.Gln1621Glu | |
| ENST00000361917.5:c.4540C>G | ENSP00000355123.1:p.Gln1514Glu | |
| ENST00000374708.8:c.4603C>G | ENSP00000363840.4:p.Gln1535Glu | |
| ENST00000477772.1:n.651C>G | ||
| NM_080679.2:c.4540C>G | NP_542410.2:p.Gln1514Glu | |
| NM_080680.2:c.4861C>G | NP_542411.2:p.Gln1621Glu | |
| NM_080681.2:c.4603C>G | NP_542412.2:p.Gln1535Glu | |
| XM_011514298.1:c.4015C>G | XP_011512600.1:p.Gln1339Glu | |
| XM_011514299.1:c.4147C>G | XP_011512601.1:p.Gln1383Glu | |
| XM_011514300.1:c.3967C>G | XP_011512602.1:p.Gln1323Glu | |
| XM_011514301.1:c.3904C>G | XP_011512603.1:p.Gln1302Glu | |
| XM_011514302.1:c.3748C>G | XP_011512604.1:p.Gln1250Glu | |
| XM_011514299.2:c.4147C>G | XP_011512601.1:p.Gln1383Glu | |
| XM_011514300.2:c.3967C>G | XP_011512602.1:p.Gln1323Glu | |
| XM_011514302.2:c.3748C>G | XP_011512604.1:p.Gln1250Glu | |
| XM_017010250.1:c.4861C>G | XP_016865739.1:p.Gln1621Glu | |
| XM_017010251.2:c.3679C>G | XP_016865740.1:p.Gln1227Glu | |
| NM_080680.3:c.4861C>G MANE Select | NP_542411.2:p.Gln1621Glu | |
| NM_080681.3:c.4603C>G | NP_542412.2:p.Gln1535Glu | |
| NM_080679.3:c.4540C>G | NP_542410.2:p.Gln1514Glu |