Linked Data
ClinVar Variation Id:
128136
dbSNP Id:
rs587780214
ExAC:
16:23634389 A / G
gnomAD v2:
16-23634389-A-G
gnomAD v3:
16-23623068-A-G
gnomAD v4:
16-23623068-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23623068A>G , CM000678.2:g.23623068A>G | GRCh38 |
| NC_000016.9:g.23634389A>G , CM000678.1:g.23634389A>G | GRCh37 |
| NC_000016.8:g.23541890A>G | NCBI36 |
| NG_007406.1:g.23290T>C , LRG_308:g.23290T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561514.3:c.2903T>C | ENSP00000460666.3:p.Ile968Thr | |
| ENST00000565038.2:c.*378T>C | ENSP00000459882.2:n.*378T>C | |
| ENST00000566069.6:c.2897T>C | ENSP00000459237.2:p.Ile966Thr | |
| ENST00000697377.2:c.2741T>C | ENSP00000513286.2:p.Ile914Thr | |
| ENST00000697379.2:c.2903T>C | ENSP00000513287.2:p.Ile968Thr | |
| ENST00000561514.2:c.2012T>C | ENSP00000460666.2:p.Ile671Thr | |
| ENST00000697374.1:c.2012T>C | ENSP00000513284.1:p.Ile671Thr | |
| ENST00000697375.1:n.4244T>C | ||
| ENST00000697376.1:c.2012T>C | ENSP00000513285.1:p.Ile671Thr | |
| ENST00000697377.1:c.1850T>C | ENSP00000513286.1:p.Ile617Thr | |
| ENST00000697378.1:n.3417T>C | ||
| ENST00000697379.1:c.2012T>C | ENSP00000513287.1:p.Ile671Thr | |
| ENST00000697380.1:n.2189T>C | ||
| ENST00000697381.1:n.1592T>C | ||
| ENST00000697382.1:c.2012T>C | ENSP00000513288.1:p.Ile671Thr | |
| ENST00000697383.1:c.431T>C | ENSP00000513289.1:p.Ile144Thr | |
| ENST00000261584.9:c.2897T>C MANE Select | ENSP00000261584.4:p.Ile966Thr | |
| ENST00000261584.8:c.2897T>C | ENSP00000261584.4:p.Ile966Thr | |
| ENST00000568219.5:c.2012T>C | ENSP00000454703.2:p.Ile671Thr | |
| NM_024675.3:c.2897T>C , LRG_308t1:c.2897T>C | NP_078951.2:p.Ile966Thr | |
| XM_011545946.1:c.2903T>C | XP_011544248.1:p.Ile968Thr | |
| XM_011545947.1:c.2903T>C | XP_011544249.1:p.Ile968Thr | |
| XM_011545948.1:c.2012T>C | XP_011544250.1:p.Ile671Thr | |
| XR_950851.1:n.3693T>C | ||
| XM_011545946.2:c.2903T>C | XP_011544248.1:p.Ile968Thr | |
| XM_011545947.2:c.2903T>C | XP_011544249.1:p.Ile968Thr | |
| XM_011545948.2:c.2012T>C | XP_011544250.1:p.Ile671Thr | |
| XM_017023671.1:c.2903T>C | XP_016879160.1:p.Ile968Thr | |
| XM_017023672.2:c.2897T>C | XP_016879161.1:p.Ile966Thr | |
| XM_017023673.2:c.2897T>C | XP_016879162.1:p.Ile966Thr | |
| NM_024675.4:c.2897T>C MANE Select | NP_078951.2:p.Ile966Thr |