Revel Score:
ENST00000460779
0.204
ENST00000467632
0.204
ENST00000383673 (MANE Select)
0.204
ENST00000281274
0.204
ENST00000295881
0.204
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.114139503C>G , CM000665.2:g.114139503C>G | GRCh38 |
| NC_000003.11:g.113858350C>G , CM000665.1:g.113858350C>G | GRCh37 |
| NC_000003.10:g.115341040C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698213.1:c.720G>C | ENSP00000513607.1:p.Gln240His | |
| ENST00000383673.5:c.720G>C MANE Select | ENSP00000373169.2:p.Gln240His | |
| ENST00000295881.9:c.720G>C | ENSP00000295881.6:p.Gln240His | |
| ENST00000383673.4:c.720G>C | ENSP00000373169.2:p.Gln240His | |
| ENST00000460779.5:c.720G>C | ENSP00000419402.1:p.Gln240His | |
| ENST00000467632.5:c.720G>C | ENSP00000420662.1:p.Gln240His | |
| XM_011512510.1:c.720G>C | XP_011510812.1:p.Gln240His | |
| XM_011512511.1:c.720G>C | XP_011510813.1:p.Gln240His | |
| XM_011512512.1:c.720G>C | XP_011510814.1:p.Gln240His | |
| XM_017005829.1:c.720G>C | XP_016861318.1:p.Gln240His | |
| NM_000796.6:c.720G>C MANE Select | NP_000787.2:p.Gln240His | |
| NM_033663.6:c.720G>C | NP_387512.3:p.Gln240His |