Linked Data
ClinVar Variation Id:
141785
ClinVar RCV Id:
RCV000130431
RCV000204730
RCV000482622
RCV001194140
RCV002505109
RCV001355887
RCV003389456
RCV003444205
RCV004544294
dbSNP Id:
rs138273800
ExAC:
16:23625380 A / G
gnomAD v2:
16-23625380-A-G
gnomAD v3:
16-23614059-A-G
gnomAD v4:
16-23614059-A-G
PubMed:
PMID:26283626
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23614059A>G , CM000678.2:g.23614059A>G | GRCh38 |
| NC_000016.9:g.23625380A>G , CM000678.1:g.23625380A>G | GRCh37 |
| NC_000016.8:g.23532881A>G | NCBI36 |
| NG_007406.1:g.32299T>C , LRG_308:g.32299T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561514.3:c.3152T>C | ENSP00000460666.3:p.Met1051Thr | |
| ENST00000565038.2:c.*627T>C | ENSP00000459882.2:n.*627T>C | |
| ENST00000566069.6:c.3146T>C | ENSP00000459237.2:p.Met1049Thr | |
| ENST00000697377.2:c.2990T>C | ENSP00000513286.2:p.Met997Thr | |
| ENST00000697379.2:c.3152T>C | ENSP00000513287.2:p.Met1051Thr | |
| ENST00000561514.2:c.2261T>C | ENSP00000460666.2:p.Met754Thr | |
| ENST00000697374.1:c.2261T>C | ENSP00000513284.1:p.Met754Thr | |
| ENST00000697375.1:n.4493T>C | ||
| ENST00000697376.1:c.2261T>C | ENSP00000513285.1:p.Met754Thr | |
| ENST00000697377.1:c.2099T>C | ENSP00000513286.1:p.Met700Thr | |
| ENST00000697378.1:n.3666T>C | ||
| ENST00000697379.1:c.2261T>C | ENSP00000513287.1:p.Met754Thr | |
| ENST00000697380.1:n.2406-6047T>C | ||
| ENST00000697381.1:n.1841T>C | ||
| ENST00000697382.1:c.2229-6047T>C | ENSP00000513288.1:n.2229-6047T>C | |
| ENST00000697383.1:c.680T>C | ENSP00000513289.1:p.Met227Thr | |
| ENST00000261584.9:c.3146T>C MANE Select | ENSP00000261584.4:p.Met1049Thr | |
| ENST00000261584.8:c.3146T>C | ENSP00000261584.4:p.Met1049Thr | |
| ENST00000566069.5:c.61T>C | ||
| ENST00000568219.5:c.2261T>C | ENSP00000454703.2:p.Met754Thr | |
| NM_024675.3:c.3146T>C , LRG_308t1:c.3146T>C | NP_078951.2:p.Met1049Thr | |
| XM_011545946.1:c.3152T>C | XP_011544248.1:p.Met1051Thr | |
| XM_011545947.1:c.3152T>C | XP_011544249.1:p.Met1051Thr | |
| XM_011545948.1:c.2261T>C | XP_011544250.1:p.Met754Thr | |
| XR_950851.1:n.3910-6047T>C | ||
| XM_011545946.2:c.3152T>C | XP_011544248.1:p.Met1051Thr | |
| XM_011545947.2:c.3152T>C | XP_011544249.1:p.Met1051Thr | |
| XM_011545948.2:c.2261T>C | XP_011544250.1:p.Met754Thr | |
| XM_017023671.1:c.3119+7303T>C | XP_016879160.1:n.3119+7303T>C | |
| XM_017023672.2:c.3113+7303T>C | XP_016879161.1:n.3113+7303T>C | |
| XM_017023673.2:c.3146T>C | XP_016879162.1:p.Met1049Thr | |
| NM_024675.4:c.3146T>C MANE Select | NP_078951.2:p.Met1049Thr |