Linked Data
ClinVar Variation Id:
194380
dbSNP Id:
rs121909075
ExAC:
6:35467877 A / G
gnomAD v2:
6-35467877-A-G
gnomAD v3:
6-35500100-A-G
gnomAD v4:
6-35500100-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.35500100A>G , CM000668.2:g.35500100A>G | GRCh38 |
| NC_000006.11:g.35467877A>G , CM000668.1:g.35467877A>G | GRCh37 |
| NC_000006.10:g.35575855A>G | NCBI36 |
| NG_009077.1:g.17771T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000229771.11:c.1376T>C MANE Select | ENSP00000229771.6:p.Ile459Thr | |
| ENST00000229771.10:c.1376T>C | ENSP00000229771.6:p.Ile459Thr | |
| ENST00000322263.8:c.1217T>C | ENSP00000319414.4:p.Ile406Thr | |
| ENST00000495781.1:n.552T>C | ||
| ENST00000614066.4:c.1370T>C | ENSP00000477534.1:p.Ile457Thr | |
| NM_001289395.1:c.1217T>C | NP_001276324.1:p.Ile406Thr | |
| NM_003322.4:c.1376T>C | NP_003313.3:p.Ile459Thr | |
| NM_003322.5:c.1376T>C | NP_003313.3:p.Ile459Thr | |
| NM_003322.6:c.1376T>C MANE Select | NP_003313.3:p.Ile459Thr | |
| NM_001289395.2:c.1217T>C | NP_001276324.1:p.Ile406Thr |