Revel Score:
ENST00000322507 (MANE Select)
0.719
ENST00000425443
0.719
ENST00000432784
0.719
ENST00000345356
0.719
ENST00000416123
0.719
ENST00000483888
0.719
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.75087586C>A , CM000668.2:g.75087586C>A | GRCh38 |
| NC_000006.11:g.75797302C>A , CM000668.1:g.75797302C>A | GRCh37 |
| NC_000006.10:g.75854022C>A | NCBI36 |
| NG_042181.1:g.123322G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322507.13:c.9172G>T MANE Select | ENSP00000325146.8:p.Gly3058Cys | |
| ENST00000680981.1:n.581G>T | ||
| ENST00000681086.1:n.955G>T | ||
| ENST00000322507.12:c.9172G>T | ENSP00000325146.8:p.Gly3058Cys | |
| ENST00000345356.10:c.5680G>T | ENSP00000305147.9:p.Gly1894Cys | |
| ENST00000416123.6:c.8944G>T | ENSP00000412864.2:p.Gly2982Cys | |
| ENST00000425443.6:c.2086G>T | ENSP00000399812.2:p.Gly696Cys | |
| ENST00000483888.6:c.9160G>T | ENSP00000421216.1:p.Gly3054Cys | |
| ENST00000615798.4:c.5605G>T | ENSP00000483232.1:p.Gly1869Cys | |
| NM_004370.5:c.9172G>T | NP_004361.3:p.Gly3058Cys | |
| NM_080645.2:c.5680G>T | NP_542376.2:p.Gly1894Cys | |
| XM_011535434.1:c.9172G>T | XP_011533736.1:p.Gly3058Cys | |
| XM_011535435.1:c.8899G>T | XP_011533737.1:p.Gly2967Cys | |
| XM_011535436.1:c.5680G>T | XP_011533738.1:p.Gly1894Cys | |
| XM_011535436.2:c.5680G>T | XP_011533738.1:p.Gly1894Cys | |
| XM_017010252.2:c.9136G>T | XP_016865741.1:p.Gly3046Cys | |
| NM_004370.6:c.9172G>T MANE Select | NP_004361.3:p.Gly3058Cys | |
| NM_080645.3:c.5680G>T | NP_542376.2:p.Gly1894Cys |