Linked Data
ClinVar Variation Id:
461019
dbSNP Id:
rs757567654
ExAC:
16:23647149 G / T
gnomAD v2:
16-23647149-G-T
gnomAD v3:
16-23635828-G-T
gnomAD v4:
16-23635828-G-T
PubMed:
PMID:26411315
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23635828G>T , CM000678.2:g.23635828G>T | GRCh38 |
| NC_000016.9:g.23647149G>T , CM000678.1:g.23647149G>T | GRCh37 |
| NC_000016.8:g.23554650G>T | NCBI36 |
| NG_007406.1:g.10530C>A , LRG_308:g.10530C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561514.3:c.724C>A | ENSP00000460666.3:p.Pro242Thr | |
| ENST00000565038.2:c.211+2022C>A | ENSP00000459882.2:n.211+2022C>A | |
| ENST00000566069.6:c.718C>A | ENSP00000459237.2:p.Pro240Thr | |
| ENST00000697377.2:c.724C>A | ENSP00000513286.2:p.Pro242Thr | |
| ENST00000697379.2:c.724C>A | ENSP00000513287.2:p.Pro242Thr | |
| ENST00000561514.2:c.-168C>A | ENSP00000460666.2:n.-168C>A | |
| ENST00000697374.1:c.-168C>A | ENSP00000513284.1:n.-168C>A | |
| ENST00000697375.1:n.2065C>A | ||
| ENST00000697376.1:c.-168C>A | ENSP00000513285.1:n.-168C>A | |
| ENST00000697377.1:c.-168C>A | ENSP00000513286.1:n.-168C>A | |
| ENST00000697378.1:n.1238C>A | ||
| ENST00000697379.1:c.-168C>A | ENSP00000513287.1:n.-168C>A | |
| ENST00000697382.1:c.-168C>A | ENSP00000513288.1:n.-168C>A | |
| ENST00000697383.1:c.48+5282C>A | ENSP00000513289.1:n.48+5282C>A | |
| ENST00000697384.1:n.872C>A | ||
| ENST00000261584.9:c.718C>A MANE Select | ENSP00000261584.4:p.Pro240Thr | |
| ENST00000261584.8:c.718C>A | ENSP00000261584.4:p.Pro240Thr | |
| ENST00000565038.1:c.86+2022C>A | ||
| ENST00000568219.5:c.-168C>A | ENSP00000454703.2:n.-168C>A | |
| NM_024675.3:c.718C>A , LRG_308t1:c.718C>A | NP_078951.2:p.Pro240Thr | |
| XM_011545946.1:c.724C>A | XP_011544248.1:p.Pro242Thr | |
| XM_011545947.1:c.724C>A | XP_011544249.1:p.Pro242Thr | |
| XM_011545948.1:c.-168C>A | XP_011544250.1:n.-168C>A | |
| XR_950851.1:n.1514C>A | ||
| XM_011545946.2:c.724C>A | XP_011544248.1:p.Pro242Thr | |
| XM_011545947.2:c.724C>A | XP_011544249.1:p.Pro242Thr | |
| XM_011545948.2:c.-168C>A | XP_011544250.1:n.-168C>A | |
| XM_017023671.1:c.724C>A | XP_016879160.1:p.Pro242Thr | |
| XM_017023672.2:c.718C>A | XP_016879161.1:p.Pro240Thr | |
| XM_017023673.2:c.718C>A | XP_016879162.1:p.Pro240Thr | |
| NM_024675.4:c.718C>A MANE Select | NP_078951.2:p.Pro240Thr |