Linked Data
ClinVar Variation Id:
182774
dbSNP Id:
rs45616636
ExAC:
16:23619257 A / G
gnomAD v2:
16-23619257-A-G
gnomAD v3:
16-23607936-A-G
gnomAD v4:
16-23607936-A-G
PubMed:
PMID:25575445
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23607936A>G , CM000678.2:g.23607936A>G | GRCh38 |
| NC_000016.9:g.23619257A>G , CM000678.1:g.23619257A>G | GRCh37 |
| NC_000016.8:g.23526758A>G | NCBI36 |
| NG_007406.1:g.38422T>C , LRG_308:g.38422T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561514.3:c.3284T>C | ENSP00000460666.3:p.Ile1095Thr | |
| ENST00000565038.2:c.*759T>C | ENSP00000459882.2:n.*759T>C | |
| ENST00000566069.6:c.3202-4267T>C | ENSP00000459237.2:n.3202-4267T>C | |
| ENST00000697377.2:c.3122T>C | ENSP00000513286.2:p.Ile1041Thr | |
| ENST00000697379.2:c.3284T>C | ENSP00000513287.2:p.Ile1095Thr | |
| ENST00000561514.2:c.2393T>C | ENSP00000460666.2:p.Ile798Thr | |
| ENST00000697374.1:c.2393T>C | ENSP00000513284.1:p.Ile798Thr | |
| ENST00000697375.1:n.4625T>C | ||
| ENST00000697376.1:c.2317-4267T>C | ENSP00000513285.1:n.2317-4267T>C | |
| ENST00000697377.1:c.2231T>C | ENSP00000513286.1:p.Ile744Thr | |
| ENST00000697378.1:n.3798T>C | ||
| ENST00000697379.1:c.2393T>C | ENSP00000513287.1:p.Ile798Thr | |
| ENST00000697380.1:n.2482T>C | ||
| ENST00000697381.1:n.1973T>C | ||
| ENST00000697382.1:c.*55T>C | ENSP00000513288.1:n.*55T>C | |
| ENST00000697383.1:c.812T>C | ENSP00000513289.1:p.Ile271Thr | |
| ENST00000261584.9:c.3278T>C MANE Select | ENSP00000261584.4:p.Ile1093Thr | |
| ENST00000261584.8:c.3278T>C | ENSP00000261584.4:p.Ile1093Thr | |
| ENST00000566069.5:c.117-4267T>C | ||
| ENST00000568219.5:c.2393T>C | ENSP00000454703.2:p.Ile798Thr | |
| NM_024675.3:c.3278T>C , LRG_308t1:c.3278T>C | NP_078951.2:p.Ile1093Thr | |
| XM_011545946.1:c.3284T>C | XP_011544248.1:p.Ile1095Thr | |
| XM_011545947.1:c.3208-4267T>C | XP_011544249.1:n.3208-4267T>C | |
| XM_011545948.1:c.2393T>C | XP_011544250.1:p.Ile798Thr | |
| XR_950851.1:n.3986T>C | ||
| XM_011545946.2:c.3284T>C | XP_011544248.1:p.Ile1095Thr | |
| XM_011545947.2:c.3208-4267T>C | XP_011544249.1:n.3208-4267T>C | |
| XM_011545948.2:c.2393T>C | XP_011544250.1:p.Ile798Thr | |
| XM_017023671.1:c.3120-4267T>C | XP_016879160.1:n.3120-4267T>C | |
| XM_017023672.2:c.3114-4267T>C | XP_016879161.1:n.3114-4267T>C | |
| XM_017023673.2:c.3202-4267T>C | XP_016879162.1:n.3202-4267T>C | |
| NM_024675.4:c.3278T>C MANE Select | NP_078951.2:p.Ile1093Thr |