Linked Data
dbSNP Id:
rs765337883
ExAC:
4:100341831 T / C
gnomAD v2:
4-100341831-T-C
gnomAD v3:
4-99420674-T-C
gnomAD v4:
4-99420674-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99420674T>C , CM000666.2:g.99420674T>C | GRCh38 |
| NC_000004.11:g.100341831T>C , CM000666.1:g.100341831T>C | GRCh37 |
| NC_000004.10:g.100560854T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000437033.7:c.684A>G MANE Select | ENSP00000414254.2:p.Lys228= | |
| ENST00000209665.8:c.720A>G | ENSP00000209665.4:p.Lys240= | |
| ENST00000437033.6:c.684A>G | ENSP00000414254.2:p.Lys228= | |
| ENST00000476959.5:c.744A>G | ENSP00000420269.1:p.Lys248= | |
| ENST00000482593.5:c.513A>G | ENSP00000420613.1:p.Lys171= | |
| NM_000673.4:c.720A>G | NP_000664.2:p.Lys240= | |
| NM_001166504.1:c.744A>G | NP_001159976.1:p.Lys248= | |
| NM_000673.7:c.684A>G MANE Select | NP_000664.3:p.Lys228= | |
| NM_001166504.2:c.744A>G | NP_001159976.1:p.Lys248= |