Linked Data
dbSNP Id:
rs765720786
ExAC:
13:113768264 C / A
gnomAD v2:
13-113768264-C-A
gnomAD v4:
13-113113950-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.113113950C>A , CM000675.2:g.113113950C>A | GRCh38 |
| NC_000013.10:g.113768264C>A , CM000675.1:g.113768264C>A | GRCh37 |
| NC_000013.9:g.112816265C>A | NCBI36 |
| NG_009262.1:g.13160C>A , LRG_554:g.13160C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000346342.8:c.354C>A MANE Select | ENSP00000329546.4:p.Asn118Lys | |
| ENST00000346342.7:c.354C>A | ENSP00000329546.3:p.Asn118Lys | |
| ENST00000375581.3:c.420C>A | ENSP00000364731.3:p.Asn140Lys | |
| ENST00000444337.1:c.*162C>A | ENSP00000387669.1:n.*162C>A | |
| ENST00000473085.1:n.301C>A | ||
| ENST00000479674.1:n.687C>A | ||
| ENST00000541084.5:c.168C>A | ENSP00000442051.2:p.Asn56Lys | |
| NM_000131.4:c.420C>A , LRG_554t1:c.420C>A | NP_000122.1:p.Asn140Lys | |
| NM_001267554.1:c.168C>A | NP_001254483.1:p.Asn56Lys | |
| NM_019616.3:c.354C>A , LRG_554t2:c.354C>A | NP_062562.1:p.Asn118Lys | |
| NR_051961.1:n.441C>A | ||
| XM_006719963.2:c.354C>A | XP_006720026.1:p.Asn118Lys | |
| XM_011537474.1:c.354C>A | XP_011535776.1:p.Asn118Lys | |
| XM_011537475.1:c.168C>A | XP_011535777.1:p.Asn56Lys | |
| XM_011537477.1:c.315C>A | XP_011535779.1:p.Asn105Lys | |
| XM_006719963.3:c.399C>A | XP_006720026.2:p.Asn133Lys | |
| XM_011537474.2:c.399C>A | XP_011535776.2:p.Asn133Lys | |
| XM_011537475.2:c.213C>A | XP_011535777.2:p.Asn71Lys | |
| NM_019616.4:c.354C>A MANE Select | NP_062562.1:p.Asn118Lys | |
| NR_051961.2:n.438C>A | ||
| NM_001267554.2:c.168C>A | NP_001254483.1:p.Asn56Lys |