COSMIC:
COSM4406953 (not active)
Revel Score:
ENST00000275016 (MANE Select)
0.218
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.64618759 (AFR)
Genomes Max Group AF
0.63330144 (AFR)
Exomes Max Group AF
0.65776205 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.46596080A>T , CM000668.2:g.46596080A>T | GRCh38 |
| NC_000006.11:g.46563817A>T , CM000668.1:g.46563817A>T | GRCh37 |
| NC_000006.10:g.46671776A>T | NCBI36 |
| NG_007962.1:g.61707T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000275016.3:c.972T>A MANE Select | ENSP00000275016.2:p.Asn324Lys | |
| ENST00000275016.2:c.972T>A | ENSP00000275016.2:p.Asn324Lys | |
| ENST00000480804.1:n.283T>A | ||
| ENST00000619708.4:c.456T>A | ENSP00000477769.1:p.Asn152Lys | |
| NM_001278738.1:c.912T>A | NP_001265667.1:p.Asn304Lys | |
| NM_001278739.1:c.456T>A | NP_001265668.1:p.Asn152Lys | |
| NM_016593.4:c.972T>A | NP_057677.2:p.Asn324Lys | |
| XM_005249171.2:c.972T>A | XP_005249228.1:p.Asn324Lys | |
| XM_011514655.1:c.972T>A | XP_011512957.1:p.Asn324Lys | |
| XM_011514656.1:c.912T>A | XP_011512958.1:p.Asn304Lys | |
| XM_011514657.1:c.864T>A | XP_011512959.1:p.Asn288Lys | |
| XM_011514658.1:c.972T>A | XP_011512960.1:p.Asn324Lys | |
| XM_005249171.4:c.972T>A | XP_005249228.1:p.Asn324Lys | |
| XM_017010921.1:c.972T>A | XP_016866410.1:p.Asn324Lys | |
| XM_017010922.1:c.912T>A | XP_016866411.1:p.Asn304Lys | |
| XM_017010923.1:c.864T>A | XP_016866412.1:p.Asn288Lys | |
| XM_017010924.1:c.864T>A | XP_016866413.1:p.Asn288Lys | |
| XM_017010925.1:c.864T>A | XP_016866414.1:p.Asn288Lys | |
| XM_024446452.1:c.768T>A | XP_024302220.1:p.Asn256Lys | |
| XM_024446453.1:c.609T>A | XP_024302221.1:p.Asn203Lys | |
| NM_016593.5:c.972T>A MANE Select | NP_057677.2:p.Asn324Lys | |
| NM_001278738.2:c.912T>A | NP_001265667.1:p.Asn304Lys | |
| NM_001278739.2:c.456T>A | NP_001265668.1:p.Asn152Lys |