Linked Data
ClinVar Variation Id:
1439038
ClinVar RCV Id:
RCV001974852
dbSNP Id:
rs147833091
ExAC:
12:124228392 C / G
gnomAD v2:
12-124228392-C-G
gnomAD v3:
12-123743845-C-G
gnomAD v4:
12-123743845-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.123743845C>G , CM000674.2:g.123743845C>G | GRCh38 |
| NC_000012.11:g.124228392C>G , CM000674.1:g.124228392C>G | GRCh37 |
| NC_000012.10:g.122794345C>G | NCBI36 |
| NG_012743.1:g.36528C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330342.8:c.1099C>G MANE Select | ENSP00000332247.2:p.Pro367Ala | |
| ENST00000540368.6:n.1130C>G | ||
| ENST00000674794.1:c.1187C>G | ||
| ENST00000675260.1:n.374C>G | ||
| ENST00000675344.1:c.*120C>G | ENSP00000501953.1:n.*120C>G | |
| ENST00000330342.7:c.1099C>G | ENSP00000332247.2:p.Pro367Ala | |
| ENST00000504192.2:c.709C>G | ENSP00000443441.1:p.Pro237Ala | |
| ENST00000536426.1:n.116C>G | ||
| ENST00000545059.5:n.3735C>G | ||
| NM_012463.3:c.1099C>G | NP_036595.2:p.Pro367Ala | |
| XM_005253563.1:c.1099C>G | XP_005253620.1:p.Pro367Ala | |
| XM_006719317.2:c.586C>G | XP_006719380.1:p.Pro196Ala | |
| XM_006719318.2:c.277C>G | XP_006719381.1:p.Pro93Ala | |
| XR_429088.1:n.1262C>G | ||
| XM_024448910.1:c.1099C>G | XP_024304678.1:p.Pro367Ala | |
| XM_024448911.1:c.586C>G | XP_024304679.1:p.Pro196Ala | |
| XM_024448912.1:c.277C>G | XP_024304680.1:p.Pro93Ala | |
| NM_012463.4:c.1099C>G MANE Select | NP_036595.2:p.Pro367Ala |