Linked Data
ClinVar Variation Id:
178545
dbSNP Id:
rs139985214
ExAC:
9:75406840 A / G
gnomAD v2:
9-75406840-A-G
gnomAD v3:
9-72791924-A-G
gnomAD v4:
9-72791924-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.72791924A>G , CM000671.2:g.72791924A>G | GRCh38 |
| NC_000009.11:g.75406840A>G , CM000671.1:g.75406840A>G | GRCh37 |
| NC_000009.10:g.74596660A>G | NCBI36 |
| NG_008213.1:g.275124A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000297784.10:c.1263A>G MANE Select | ENSP00000297784.6:p.Pro421= | |
| ENST00000644967.1:c.825A>G | ENSP00000496159.1:p.Pro275= | |
| ENST00000645053.1:c.825A>G | ENSP00000493838.1:p.Pro275= | |
| ENST00000645208.2:c.1263A>G | ENSP00000494684.1:p.Pro421= | |
| ENST00000645773.1:c.1137A>G | ENSP00000493698.1:p.Pro379= | |
| ENST00000645787.1:n.1303A>G | ||
| ENST00000646619.1:c.825A>G | ENSP00000493726.1:p.Pro275= | |
| ENST00000650689.1:n.1561A>G | ||
| ENST00000651183.1:c.825A>G | ENSP00000498723.1:p.Pro275= | |
| ENST00000297784.9:c.1263A>G | ENSP00000297784.5:p.Pro421= | |
| ENST00000340019.4:c.1263A>G | ENSP00000341433.3:p.Pro421= | |
| NM_138691.2:c.1263A>G | NP_619636.2:p.Pro421= | |
| XM_011518213.1:c.1851A>G | XP_011516515.1:p.Pro617= | |
| XM_017014256.1:c.1266A>G | XP_016869745.1:p.Pro422= | |
| NM_138691.3:c.1263A>G MANE Select | NP_619636.2:p.Pro421= |