Linked Data
dbSNP Id:
rs113993320
ExAC:
4:100341818 T / C
gnomAD v2:
4-100341818-T-C
gnomAD v3:
4-99420661-T-C
gnomAD v4:
4-99420661-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99420661T>C , CM000666.2:g.99420661T>C | GRCh38 |
| NC_000004.11:g.100341818T>C , CM000666.1:g.100341818T>C | GRCh37 |
| NC_000004.10:g.100560841T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000437033.7:c.697A>G MANE Select | ENSP00000414254.2:p.Met233Val | |
| ENST00000209665.8:c.733A>G | ENSP00000209665.4:p.Met245Val | |
| ENST00000437033.6:c.697A>G | ENSP00000414254.2:p.Met233Val | |
| ENST00000476959.5:c.757A>G | ENSP00000420269.1:p.Met253Val | |
| ENST00000482593.5:c.526A>G | ENSP00000420613.1:p.Met176Val | |
| NM_000673.4:c.733A>G | NP_000664.2:p.Met245Val | |
| NM_001166504.1:c.757A>G | NP_001159976.1:p.Met253Val | |
| NM_000673.7:c.697A>G MANE Select | NP_000664.3:p.Met233Val | |
| NM_001166504.2:c.757A>G | NP_001159976.1:p.Met253Val |