ClinVar RCV:
ClinVar Variation:
dbSNP:
Revel Score:
ENST00000370096 (MANE Select)
0.986
ENST00000358392
0.986
ENST00000353414
0.986
ENST00000512756
0.986
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.102989543C>T , CM000663.2:g.102989543C>T | GRCh38 |
| NC_000001.10:g.103455099C>T , CM000663.1:g.103455099C>T | GRCh37 |
| NC_000001.9:g.103227687C>T | NCBI36 |
| NG_008033.1:g.123954G>A | |
| NG_008033.2:g.123954G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370096.9:c.2369G>A MANE Select | ENSP00000359114.3:p.Gly790Asp | |
| ENST00000353414.8:c.2252G>A | ENSP00000302551.6:p.Gly751Asp | |
| ENST00000358392.6:c.2405G>A | ENSP00000351163.2:p.Gly802Asp | |
| ENST00000370096.7:c.2369G>A | ENSP00000359114.3:p.Gly790Asp | |
| ENST00000512756.5:c.2021G>A | ENSP00000426533.1:p.Gly674Asp | |
| ENST00000635193.1:c.1687G>A | ||
| NM_001190709.1:c.2252G>A | NP_001177638.1:p.Gly751Asp | |
| NM_001854.3:c.2369G>A | NP_001845.3:p.Gly790Asp | |
| NM_080629.2:c.2405G>A | NP_542196.2:p.Gly802Asp | |
| NM_080630.3:c.2021G>A | NP_542197.3:p.Gly674Asp | |
| XM_011540719.1:c.2369G>A | XP_011539021.1:p.Gly790Asp | |
| XM_011540720.1:c.602G>A | XP_011539022.1:p.Gly201Asp | |
| XM_011540721.1:c.-60G>A | XP_011539023.1:n.-60G>A | |
| XR_946545.1:n.2767G>A | ||
| NR_134980.1:n.2687G>A | ||
| XM_017000334.1:c.2522G>A | XP_016855823.1:p.Gly841Asp | |
| XM_017000335.1:c.2516G>A | XP_016855824.1:p.Gly839Asp | |
| XM_017000336.1:c.2522G>A | XP_016855825.1:p.Gly841Asp | |
| XM_017000337.1:c.920G>A | XP_016855826.1:p.Gly307Asp | |
| NM_001854.4:c.2369G>A MANE Select | NP_001845.3:p.Gly790Asp | |
| NM_080630.4:c.2021G>A | NP_542197.3:p.Gly674Asp | |
| NR_134980.2:n.2713G>A | ||
| NM_001190709.2:c.2252G>A | NP_001177638.1:p.Gly751Asp | |
| NM_080629.3:c.2405G>A | NP_542196.2:p.Gly802Asp |