Linked Data
dbSNP Id:
rs778461610
ExAC:
4:100341946 T / G
gnomAD v2:
4-100341946-T-G
gnomAD v3:
4-99420789-T-G
gnomAD v4:
4-99420789-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99420789T>G , CM000666.2:g.99420789T>G | GRCh38 |
| NC_000004.11:g.100341946T>G , CM000666.1:g.100341946T>G | GRCh37 |
| NC_000004.10:g.100560969T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000437033.7:c.569A>C MANE Select | ENSP00000414254.2:p.Lys190Thr | |
| ENST00000209665.8:c.605A>C | ENSP00000209665.4:p.Lys202Thr | |
| ENST00000437033.6:c.569A>C | ENSP00000414254.2:p.Lys190Thr | |
| ENST00000476959.5:c.629A>C | ENSP00000420269.1:p.Lys210Thr | |
| ENST00000482593.5:c.398A>C | ENSP00000420613.1:p.Lys133Thr | |
| NM_000673.4:c.605A>C | NP_000664.2:p.Lys202Thr | |
| NM_001166504.1:c.629A>C | NP_001159976.1:p.Lys210Thr | |
| NM_000673.7:c.569A>C MANE Select | NP_000664.3:p.Lys190Thr | |
| NM_001166504.2:c.629A>C | NP_001159976.1:p.Lys210Thr |