Linked Data
dbSNP Id:
rs3822430
ExAC:
5:6651970 A / G
gnomAD v2:
5-6651970-A-G
gnomAD v3:
5-6651857-A-G
gnomAD v4:
5-6651857-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.6651857A>G , CM000667.2:g.6651857A>G | GRCh38 |
| NC_000005.9:g.6651970A>G , CM000667.1:g.6651970A>G | GRCh37 |
| NC_000005.8:g.6704970A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000504286.2:c.309A>G | ENSP00000518753.1:p.Pro103= | |
| ENST00000510531.6:c.*430A>G | ENSP00000425330.1:n.*430A>G | |
| ENST00000274192.7:c.309A>G MANE Select | ENSP00000274192.5:p.Pro103= | |
| ENST00000274192.6:c.309A>G | ENSP00000274192.5:p.Pro103= | |
| ENST00000504286.1:n.430A>G | ||
| ENST00000510531.5:c.*430A>G | ENSP00000425330.1:n.*430A>G | |
| ENST00000513117.1:c.294-4221A>G | ENSP00000421342.1:n.294-4221A>G | |
| NM_001047.2:c.309A>G | NP_001038.1:p.Pro103= | |
| XM_011514103.1:c.320-4221A>G | XP_011512405.1:n.320-4221A>G | |
| NM_001047.3:c.309A>G | NP_001038.1:p.Pro103= | |
| NM_001324322.1:c.320-4221A>G | NP_001311251.1:n.320-4221A>G | |
| NM_001324323.1:c.90A>G | NP_001311252.1:p.Pro30= | |
| NR_136739.1:n.564A>G | ||
| NM_001047.4:c.309A>G MANE Select | NP_001038.1:p.Pro103= | |
| NM_001324322.2:c.320-4221A>G | NP_001311251.1:n.320-4221A>G | |
| NM_001324323.2:c.90A>G | NP_001311252.1:p.Pro30= | |
| NR_136739.2:n.446A>G |