Linked Data
ClinVar Variation Id:
1149266
ClinVar RCV Id:
RCV001489439
dbSNP Id:
rs777919249
gnomAD v2:
X-18646673-C-G
gnomAD v3:
X-18628553-C-G
gnomAD v4:
X-18628553-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.18628553C>G , CM000685.2:g.18628553C>G | GRCh38 |
| NC_000023.10:g.18646673C>G , CM000685.1:g.18646673C>G | GRCh37 |
| NC_000023.9:g.18556594C>G | NCBI36 |
| NG_008475.1:g.207949C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000623535.2:c.2679C>G MANE Select | ENSP00000485244.1:p.Pro893= | |
| ENST00000674046.1:c.2802C>G | ENSP00000501174.1:p.Pro934= | |
| ENST00000379989.6:c.2679C>G | ENSP00000369325.3:p.Pro893= | |
| ENST00000379996.7:c.2679C>G | ENSP00000369332.3:p.Pro893= | |
| ENST00000623535.1:c.2679C>G | ENSP00000485244.1:p.Pro893= | |
| NM_001037343.1:c.2679C>G | NP_001032420.1:p.Pro893= | |
| NM_003159.2:c.2679C>G | NP_003150.1:p.Pro893= | |
| XM_011545569.1:c.2751C>G | XP_011543871.1:p.Pro917= | |
| XM_011545570.1:c.2670C>G | XP_011543872.1:p.Pro890= | |
| XR_950484.1:n.3054C>G | ||
| NM_001323289.1:c.2679C>G | NP_001310218.1:p.Pro893= | |
| NM_001323289.2:c.2679C>G MANE Select | NP_001310218.1:p.Pro893= | |
| NM_001037343.2:c.2679C>G | NP_001032420.1:p.Pro893= | |
| NM_003159.3:c.2679C>G | NP_003150.1:p.Pro893= |