Linked Data
ClinVar Variation Id:
245657
dbSNP Id:
rs770145849
ExAC:
16:23641327 A / T
gnomAD v2:
16-23641327-A-T
gnomAD v3:
16-23630006-A-T
gnomAD v4:
16-23630006-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23630006A>T , CM000678.2:g.23630006A>T | GRCh38 |
| NC_000016.9:g.23641327A>T , CM000678.1:g.23641327A>T | GRCh37 |
| NC_000016.8:g.23548828A>T | NCBI36 |
| NG_007406.1:g.16352T>A , LRG_308:g.16352T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561514.3:c.2154T>A | ENSP00000460666.3:p.Asn718Lys | |
| ENST00000565038.2:c.212-731T>A | ENSP00000459882.2:n.212-731T>A | |
| ENST00000566069.6:c.2148T>A | ENSP00000459237.2:p.Asn716Lys | |
| ENST00000697377.2:c.2154T>A | ENSP00000513286.2:p.Asn718Lys | |
| ENST00000697379.2:c.2154T>A | ENSP00000513287.2:p.Asn718Lys | |
| ENST00000561514.2:c.1263T>A | ENSP00000460666.2:p.Asn421Lys | |
| ENST00000697374.1:c.1263T>A | ENSP00000513284.1:p.Asn421Lys | |
| ENST00000697375.1:n.3495T>A | ||
| ENST00000697376.1:c.1263T>A | ENSP00000513285.1:p.Asn421Lys | |
| ENST00000697377.1:c.1263T>A | ENSP00000513286.1:p.Asn421Lys | |
| ENST00000697378.1:n.2668T>A | ||
| ENST00000697379.1:c.1263T>A | ENSP00000513287.1:p.Asn421Lys | |
| ENST00000697380.1:n.1076T>A | ||
| ENST00000697381.1:n.843T>A | ||
| ENST00000697382.1:c.1263T>A | ENSP00000513288.1:p.Asn421Lys | |
| ENST00000697383.1:c.49-731T>A | ENSP00000513289.1:n.49-731T>A | |
| ENST00000697384.1:n.2302T>A | ||
| ENST00000261584.9:c.2148T>A MANE Select | ENSP00000261584.4:p.Asn716Lys | |
| ENST00000261584.8:c.2148T>A | ENSP00000261584.4:p.Asn716Lys | |
| ENST00000565038.1:c.87-731T>A | ||
| ENST00000568219.5:c.1263T>A | ENSP00000454703.2:p.Asn421Lys | |
| NM_024675.3:c.2148T>A , LRG_308t1:c.2148T>A | NP_078951.2:p.Asn716Lys | |
| XM_011545946.1:c.2154T>A | XP_011544248.1:p.Asn718Lys | |
| XM_011545947.1:c.2154T>A | XP_011544249.1:p.Asn718Lys | |
| XM_011545948.1:c.1263T>A | XP_011544250.1:p.Asn421Lys | |
| XR_950851.1:n.2944T>A | ||
| XM_011545946.2:c.2154T>A | XP_011544248.1:p.Asn718Lys | |
| XM_011545947.2:c.2154T>A | XP_011544249.1:p.Asn718Lys | |
| XM_011545948.2:c.1263T>A | XP_011544250.1:p.Asn421Lys | |
| XM_017023671.1:c.2154T>A | XP_016879160.1:p.Asn718Lys | |
| XM_017023672.2:c.2148T>A | XP_016879161.1:p.Asn716Lys | |
| XM_017023673.2:c.2148T>A | XP_016879162.1:p.Asn716Lys | |
| NM_024675.4:c.2148T>A MANE Select | NP_078951.2:p.Asn716Lys |