Linked Data
ClinVar Variation Id:
126740
ClinVar RCV Id:
RCV000114625
RCV000116104
RCV000585950
RCV001004833
RCV000764041
RCV001804169
RCV004528795
dbSNP Id:
rs62625284
ExAC:
16:23614913 A / T
gnomAD v2:
16-23614913-A-T
gnomAD v3:
16-23603592-A-T
gnomAD v4:
16-23603592-A-T
MyVariant Identifiers:
chr16:g.23614913A>T (hg19)
chr16:g.23614913_23614914delinsTG (hg19)
chr16:g.23603592A>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23603592A>T , CM000678.2:g.23603592A>T | GRCh38 |
| NC_000016.9:g.23614913A>T , CM000678.1:g.23614913A>T | GRCh37 |
| NC_000016.8:g.23522414A>T | NCBI36 |
| NG_007406.1:g.42766T>A , LRG_308:g.42766T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561514.3:c.3434T>A | ENSP00000460666.3:p.Leu1145His | |
| ENST00000565038.2:c.*913T>A | ENSP00000459882.2:n.*913T>A | |
| ENST00000566069.6:c.*63T>A | ENSP00000459237.2:n.*63T>A | |
| ENST00000697377.2:c.3272T>A | ENSP00000513286.2:p.Leu1091His | |
| ENST00000697379.2:c.3434T>A | ENSP00000513287.2:p.Leu1145His | |
| ENST00000561514.2:c.2543T>A | ENSP00000460666.2:p.Leu848His | |
| ENST00000697374.1:c.2543T>A | ENSP00000513284.1:p.Leu848His | |
| ENST00000697375.1:n.4775T>A | ||
| ENST00000697376.1:c.*63T>A | ENSP00000513285.1:n.*63T>A | |
| ENST00000697377.1:c.2381T>A | ENSP00000513286.1:p.Leu794His | |
| ENST00000697378.1:n.3948T>A | ||
| ENST00000697379.1:c.2543T>A | ENSP00000513287.1:p.Leu848His | |
| ENST00000697380.1:n.2632T>A | ||
| ENST00000697381.1:n.2123T>A | ||
| ENST00000697382.1:c.*205T>A | ENSP00000513288.1:n.*205T>A | |
| ENST00000697383.1:c.962T>A | ENSP00000513289.1:p.Leu321His | |
| ENST00000261584.9:c.3428T>A MANE Select | ENSP00000261584.4:p.Leu1143His | |
| ENST00000261584.8:c.3428T>A | ENSP00000261584.4:p.Leu1143His | |
| ENST00000566069.5:c.194T>A | ||
| ENST00000568219.5:c.2543T>A | ENSP00000454703.2:p.Leu848His | |
| NM_024675.3:c.3428T>A , LRG_308t1:c.3428T>A | NP_078951.2:p.Leu1143His | |
| XM_011545946.1:c.3434T>A | XP_011544248.1:p.Leu1145His | |
| XM_011545947.1:c.*63T>A | XP_011544249.1:n.*63T>A | |
| XM_011545948.1:c.2543T>A | XP_011544250.1:p.Leu848His | |
| XR_950851.1:n.4136T>A | ||
| XM_011545946.2:c.3434T>A | XP_011544248.1:p.Leu1145His | |
| XM_011545947.2:c.*63T>A | XP_011544249.1:n.*63T>A | |
| XM_011545948.2:c.2543T>A | XP_011544250.1:p.Leu848His | |
| XM_017023671.1:c.3197T>A | XP_016879160.1:p.Leu1066His | |
| XM_017023672.2:c.3191T>A | XP_016879161.1:p.Leu1064His | |
| XM_017023673.2:c.*63T>A | XP_016879162.1:n.*63T>A | |
| NM_024675.4:c.3428T>A MANE Select | NP_078951.2:p.Leu1143His |