Linked Data
ClinVar Variation Id:
126727
ClinVar RCV Id:
RCV000114610
RCV000656940
RCV000764043
RCV001116749
RCV000160852
RCV001358132
RCV003493439
dbSNP Id:
rs62625271
ExAC:
16:23619284 G / A
gnomAD v2:
16-23619284-G-A
gnomAD v3:
16-23607963-G-A
gnomAD v4:
16-23607963-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23607963G>A , CM000678.2:g.23607963G>A | GRCh38 |
| NC_000016.9:g.23619284G>A , CM000678.1:g.23619284G>A | GRCh37 |
| NC_000016.8:g.23526785G>A | NCBI36 |
| NG_007406.1:g.38395C>T , LRG_308:g.38395C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561514.3:c.3257C>T | ENSP00000460666.3:p.Ser1086Leu | |
| ENST00000565038.2:c.*732C>T | ENSP00000459882.2:n.*732C>T | |
| ENST00000566069.6:c.3202-4294C>T | ENSP00000459237.2:n.3202-4294C>T | |
| ENST00000697377.2:c.3095C>T | ENSP00000513286.2:p.Ser1032Leu | |
| ENST00000697379.2:c.3257C>T | ENSP00000513287.2:p.Ser1086Leu | |
| ENST00000561514.2:c.2366C>T | ENSP00000460666.2:p.Ser789Leu | |
| ENST00000697374.1:c.2366C>T | ENSP00000513284.1:p.Ser789Leu | |
| ENST00000697375.1:n.4598C>T | ||
| ENST00000697376.1:c.2317-4294C>T | ENSP00000513285.1:n.2317-4294C>T | |
| ENST00000697377.1:c.2204C>T | ENSP00000513286.1:p.Ser735Leu | |
| ENST00000697378.1:n.3771C>T | ||
| ENST00000697379.1:c.2366C>T | ENSP00000513287.1:p.Ser789Leu | |
| ENST00000697380.1:n.2455C>T | ||
| ENST00000697381.1:n.1946C>T | ||
| ENST00000697382.1:c.*28C>T | ENSP00000513288.1:n.*28C>T | |
| ENST00000697383.1:c.785C>T | ENSP00000513289.1:p.Ser262Leu | |
| ENST00000261584.9:c.3251C>T MANE Select | ENSP00000261584.4:p.Ser1084Leu | |
| ENST00000261584.8:c.3251C>T | ENSP00000261584.4:p.Ser1084Leu | |
| ENST00000566069.5:c.117-4294C>T | ||
| ENST00000568219.5:c.2366C>T | ENSP00000454703.2:p.Ser789Leu | |
| NM_024675.3:c.3251C>T , LRG_308t1:c.3251C>T | NP_078951.2:p.Ser1084Leu | |
| XM_011545946.1:c.3257C>T | XP_011544248.1:p.Ser1086Leu | |
| XM_011545947.1:c.3208-4294C>T | XP_011544249.1:n.3208-4294C>T | |
| XM_011545948.1:c.2366C>T | XP_011544250.1:p.Ser789Leu | |
| XR_950851.1:n.3959C>T | ||
| XM_011545946.2:c.3257C>T | XP_011544248.1:p.Ser1086Leu | |
| XM_011545947.2:c.3208-4294C>T | XP_011544249.1:n.3208-4294C>T | |
| XM_011545948.2:c.2366C>T | XP_011544250.1:p.Ser789Leu | |
| XM_017023671.1:c.3120-4294C>T | XP_016879160.1:n.3120-4294C>T | |
| XM_017023672.2:c.3114-4294C>T | XP_016879161.1:n.3114-4294C>T | |
| XM_017023673.2:c.3202-4294C>T | XP_016879162.1:n.3202-4294C>T | |
| NM_024675.4:c.3251C>T MANE Select | NP_078951.2:p.Ser1084Leu |