Revel Score:
ENST00000374736 (MANE Select)
0.780
gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.104794495T>C , CM000671.2:g.104794495T>C | GRCh38 |
| NC_000009.11:g.107556776T>C , CM000671.1:g.107556776T>C | GRCh37 |
| NC_000009.10:g.106596597T>C | NCBI36 |
| NG_007981.1:g.138661A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374736.8:c.5398A>G MANE Select | ENSP00000363868.3:p.Asn1800Asp | |
| ENST00000678995.1:c.5404A>G | ENSP00000504612.1:p.Asn1802Asp | |
| ENST00000374736.7:c.5398A>G | ENSP00000363868.3:p.Asn1800Asp | |
| NM_005502.3:c.5398A>G | NP_005493.2:p.Asn1800Asp | |
| XM_005251773.1:c.5404A>G | XP_005251830.1:p.Asn1802Asp | |
| XM_005251776.1:c.5224A>G | XP_005251833.1:p.Asn1742Asp | |
| XM_011518339.1:c.5479A>G | XP_011516641.1:p.Asn1827Asp | |
| XM_011518340.1:c.5479A>G | XP_011516642.1:p.Asn1827Asp | |
| XM_011518341.1:c.5473A>G | XP_011516643.1:p.Asn1825Asp | |
| XM_011518342.1:c.5041A>G | XP_011516644.1:p.Asn1681Asp | |
| XM_011518343.1:c.5479A>G | XP_011516645.1:p.Asn1827Asp | |
| XM_005251773.3:c.5404A>G | XP_005251830.1:p.Asn1802Asp | |
| XM_005251776.3:c.5224A>G | XP_005251833.1:p.Asn1742Asp | |
| XM_011518339.3:c.5479A>G | XP_011516641.1:p.Asn1827Asp | |
| XM_011518340.3:c.5479A>G | XP_011516642.1:p.Asn1827Asp | |
| XM_011518341.3:c.5473A>G | XP_011516643.1:p.Asn1825Asp | |
| XM_011518342.3:c.5041A>G | XP_011516644.1:p.Asn1681Asp | |
| XM_017014378.2:c.5479A>G | XP_016869867.1:p.Asn1827Asp | |
| XM_017014379.2:c.5479A>G | XP_016869868.1:p.Asn1827Asp | |
| XM_017014380.2:c.5479A>G | XP_016869869.1:p.Asn1827Asp | |
| XM_017014381.2:c.5479A>G | XP_016869870.1:p.Asn1827Asp | |
| XM_017014382.2:c.5341A>G | XP_016869871.1:p.Asn1781Asp | |
| XR_001746223.1:n.5792A>G | ||
| NM_005502.4:c.5398A>G MANE Select | NP_005493.2:p.Asn1800Asp |