Revel Score:
ENST00000391929
0.277
ENST00000294984 (MANE Select)
0.277
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.206901560T>G , CM000663.2:g.206901560T>G | GRCh38 |
| NC_000001.10:g.207074905T>G , CM000663.1:g.207074905T>G | GRCh37 |
| NC_000001.9:g.205141528T>G | NCBI36 |
| NG_029565.1:g.9118T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000294984.7:c.370T>G MANE Select | ENSP00000294984.2:p.Tyr124Asp | |
| ENST00000294984.6:c.370T>G | ENSP00000294984.2:p.Tyr124Asp | |
| ENST00000367093.3:c.307-438T>G | ENSP00000356060.3:n.307-438T>G | |
| ENST00000367095.7:c.*18T>G | ENSP00000356062.3:n.*18T>G | |
| ENST00000391929.7:c.373T>G | ENSP00000375795.3:p.Tyr125Asp | |
| ENST00000480741.1:c.108-438T>G | ENSP00000418933.1:n.108-438T>G | |
| ENST00000491169.1:n.281T>G | ||
| ENST00000611909.4:c.108-438T>G | ENSP00000484900.1:n.108-438T>G | |
| NM_001185156.1:c.373T>G | NP_001172085.1:p.Tyr125Asp | |
| NM_001185157.1:c.307-438T>G | NP_001172086.1:n.307-438T>G | |
| NM_001185158.1:c.108-438T>G | NP_001172087.1:n.108-438T>G | |
| NM_006850.3:c.370T>G MANE Select | NP_006841.1:p.Tyr124Asp | |
| XM_011509101.1:c.289T>G | XP_011507403.1:p.Tyr97Asp | |
| XM_011509101.2:c.289T>G | XP_011507403.1:p.Tyr97Asp | |
| XM_017000121.1:c.289T>G | XP_016855610.1:p.Tyr97Asp |