Revel Score:
ENST00000322507 (MANE Select)
0.494
ENST00000432784
0.494
ENST00000345356
0.494
ENST00000416123
0.494
ENST00000483888
0.494
ENST00000419671
0.649
ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.75133410C>G , CM000668.2:g.75133410C>G | GRCh38 |
| NC_000006.11:g.75843126C>G , CM000668.1:g.75843126C>G | GRCh37 |
| NC_000006.10:g.75899846C>G | NCBI36 |
| NG_042181.1:g.77498G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322507.13:c.5677G>C MANE Select | ENSP00000325146.8:p.Gly1893Arg | |
| ENST00000322507.12:c.5677G>C | ENSP00000325146.8:p.Gly1893Arg | |
| ENST00000345356.10:c.2185G>C | ENSP00000305147.9:p.Gly729Arg | |
| ENST00000416123.6:c.5677G>C | ENSP00000412864.2:p.Gly1893Arg | |
| ENST00000419671.1:c.1880G>C | ||
| ENST00000483888.6:c.5677G>C | ENSP00000421216.1:p.Gly1893Arg | |
| ENST00000615798.4:c.2110G>C | ENSP00000483232.1:p.Gly704Arg | |
| NM_004370.5:c.5677G>C | NP_004361.3:p.Gly1893Arg | |
| NM_080645.2:c.2185G>C | NP_542376.2:p.Gly729Arg | |
| XM_011535434.1:c.5677G>C | XP_011533736.1:p.Gly1893Arg | |
| XM_011535435.1:c.5404G>C | XP_011533737.1:p.Gly1802Arg | |
| XM_011535436.1:c.2185G>C | XP_011533738.1:p.Gly729Arg | |
| XM_011535436.2:c.2185G>C | XP_011533738.1:p.Gly729Arg | |
| XM_017010252.2:c.5641G>C | XP_016865741.1:p.Gly1881Arg | |
| NM_004370.6:c.5677G>C MANE Select | NP_004361.3:p.Gly1893Arg | |
| NM_080645.3:c.2185G>C | NP_542376.2:p.Gly729Arg |