Revel Score:
ENST00000325875
0.011
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.84002350A>C , CM000671.2:g.84002350A>C | GRCh38 |
| NC_000009.11:g.86617265A>C , CM000671.1:g.86617265A>C | GRCh37 |
| NC_000009.10:g.85807085A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000445877.6:c.1364A>C MANE Select | ENSP00000402433.2:p.Asn455Thr | |
| ENST00000325875.7:c.1364A>C | ENSP00000317039.3:p.Asn455Thr | |
| ENST00000615118.1:c.1363A>C | ENSP00000483816.1:p.Ile455Leu | |
| NM_024945.2:c.1364A>C | NP_079221.2:p.Asn455Thr | |
| XM_005252211.1:c.1364A>C | XP_005252268.1:p.Asn455Thr | |
| XM_005252213.1:c.1364A>C | XP_005252270.1:p.Asn455Thr | |
| XM_011519034.1:c.1364A>C | XP_011517336.1:p.Asn455Thr | |
| NM_001358291.1:c.1364A>C | NP_001345220.1:p.Asn455Thr | |
| NM_001358292.1:c.1364A>C | NP_001345221.1:p.Asn455Thr | |
| NM_001358293.1:c.1364A>C | NP_001345222.1:p.Asn455Thr | |
| NM_001358294.1:c.1364A>C | NP_001345223.1:p.Asn455Thr | |
| XM_017015140.1:c.1364A>C | XP_016870629.1:p.Asn455Thr | |
| NM_001358291.2:c.1364A>C MANE Select | NP_001345220.1:p.Asn455Thr | |
| NM_001358292.2:c.1364A>C | NP_001345221.1:p.Asn455Thr | |
| NM_001358293.2:c.1364A>C | NP_001345222.1:p.Asn455Thr | |
| NM_024945.3:c.1364A>C | NP_079221.2:p.Asn455Thr | |
| NM_001358294.2:c.1364A>C | NP_001345223.1:p.Asn455Thr |