Linked Data
dbSNP Id:
rs11130874
gnomAD v2:
3-62064769-A-G
gnomAD v3:
3-62079095-A-G
gnomAD v4:
3-62079095-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.62079095A>G , CM000665.2:g.62079095A>G | GRCh38 |
| NC_000003.11:g.62064769A>G , CM000665.1:g.62064769A>G | GRCh37 |
| NC_000003.10:g.62039809A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000474889.6:c.615+837A>G MANE Select | ENSP00000418112.1:n.615+837A>G | |
| ENST00000295874.14:c.615+837A>G | ENSP00000295874.10:n.615+837A>G | |
| ENST00000474889.5:c.615+837A>G | ENSP00000418112.1:n.615+837A>G | |
| ENST00000615556.3:c.429+837A>G | ENSP00000484346.1:n.429+837A>G | |
| ENST00000618938.2:c.429+837A>G | ENSP00000480407.1:n.429+837A>G | |
| NM_002841.3:c.615+837A>G | NP_002832.3:n.615+837A>G | |
| XM_005265352.3:c.573+837A>G | XP_005265409.1:n.573+837A>G | |
| XM_005265353.3:c.615+837A>G | XP_005265410.1:n.615+837A>G | |
| XM_017006961.2:c.735+837A>G | XP_016862450.1:n.735+837A>G | |
| XM_017006962.1:c.654+837A>G | XP_016862451.1:n.654+837A>G | |
| XM_017006963.2:c.735+837A>G | XP_016862452.1:n.735+837A>G | |
| XM_017006964.1:c.267+837A>G | XP_016862453.1:n.267+837A>G | |
| NM_002841.4:c.615+837A>G MANE Select | NP_002832.3:n.615+837A>G | |
| NM_001375471.1:c.615+837A>G | NP_001362400.1:n.615+837A>G |