Linked Data
dbSNP Id:
rs79655731
ExAC:
3:15512047 T / C
gnomAD v2:
3-15512047-T-C
gnomAD v4:
3-15470540-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.15470540T>C , CM000665.2:g.15470540T>C | GRCh38 |
| NC_000003.11:g.15512047T>C , CM000665.1:g.15512047T>C | GRCh37 |
| NC_000003.10:g.15487051T>C | NCBI36 |
| NG_009032.1:g.56212A>G | |
| NG_009032.2:g.56212A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000383788.10:c.713A>G MANE Select | ENSP00000373298.3:p.Lys238Arg | |
| ENST00000604401.2:n.709A>G | ||
| ENST00000679838.1:c.*475A>G | ENSP00000505708.1:n.*475A>G | |
| ENST00000680545.1:n.479A>G | ||
| ENST00000681097.1:c.713A>G | ENSP00000505397.1:p.Lys238Arg | |
| ENST00000383781.8:c.683A>G | ENSP00000373291.3:p.Lys228Arg | |
| ENST00000383786.9:c.611A>G | ENSP00000373296.3:p.Lys204Arg | |
| ENST00000383788.9:c.713A>G | ENSP00000373298.3:p.Lys238Arg | |
| ENST00000603808.5:c.713A>G | ENSP00000474271.1:p.Lys238Arg | |
| ENST00000605797.1:c.542A>G | ENSP00000474936.1:p.Lys181Arg | |
| NM_005677.3:c.713A>G | NP_005668.2:p.Lys238Arg | |
| NM_080538.2:c.683A>G | NP_536799.1:p.Lys228Arg | |
| NM_080539.3:c.611A>G | NP_536800.2:p.Lys204Arg | |
| NM_005677.4:c.713A>G MANE Select | NP_005668.2:p.Lys238Arg | |
| NM_080539.4:c.611A>G | NP_536800.2:p.Lys204Arg |