Linked Data
ClinVar Variation Id:
558964
dbSNP Id:
rs745924498
ExAC:
4:178358666 A / G
gnomAD v2:
4-178358666-A-G
gnomAD v3:
4-177437512-A-G
gnomAD v4:
4-177437512-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.177437512A>G , CM000666.2:g.177437512A>G | GRCh38 |
| NC_000004.11:g.178358666A>G , CM000666.1:g.178358666A>G | GRCh37 |
| NC_000004.10:g.178595660A>G | NCBI36 |
| NG_011845.2:g.9992T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264595.7:c.515T>C MANE Select | ENSP00000264595.2:p.Ile172Thr | |
| ENST00000264595.6:c.515T>C | ENSP00000264595.2:p.Ile172Thr | |
| ENST00000502310.5:c.170T>C | ENSP00000423798.1:p.Ile57Thr | |
| ENST00000506853.5:n.549T>C | ||
| ENST00000510635.1:c.211T>C | ||
| ENST00000510955.5:n.436T>C | ||
| NM_000027.3:c.515T>C | NP_000018.2:p.Ile172Thr | |
| NM_001171988.1:c.515T>C | NP_001165459.1:p.Ile172Thr | |
| NR_033655.1:n.643T>C | ||
| XM_006714123.2:c.515T>C | XP_006714186.1:p.Ile172Thr | |
| XR_001741155.2:n.609T>C | ||
| NM_000027.4:c.515T>C MANE Select | NP_000018.2:p.Ile172Thr | |
| NM_001171988.2:c.515T>C | NP_001165459.1:p.Ile172Thr | |
| NR_033655.2:n.577T>C |