Linked Data
dbSNP Id:
rs1363341385
gnomAD v2:
12-124228835-T-C
gnomAD v3:
12-123744288-T-C
gnomAD v4:
12-123744288-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.123744288T>C , CM000674.2:g.123744288T>C | GRCh38 |
| NC_000012.11:g.124228835T>C , CM000674.1:g.124228835T>C | GRCh37 |
| NC_000012.10:g.122794788T>C | NCBI36 |
| NG_012743.1:g.36971T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330342.8:c.1277T>C MANE Select | ENSP00000332247.2:p.Leu426Pro | |
| ENST00000540368.6:n.1308T>C | ||
| ENST00000674794.1:c.1365T>C | ||
| ENST00000675260.1:n.552T>C | ||
| ENST00000675344.1:c.*298T>C | ENSP00000501953.1:n.*298T>C | |
| ENST00000330342.7:c.1277T>C | ENSP00000332247.2:p.Leu426Pro | |
| ENST00000504192.2:c.887T>C | ENSP00000443441.1:p.Leu296Pro | |
| ENST00000536426.1:n.294T>C | ||
| ENST00000545059.5:n.3913T>C | ||
| NM_012463.3:c.1277T>C | NP_036595.2:p.Leu426Pro | |
| XM_005253563.1:c.1277T>C | XP_005253620.1:p.Leu426Pro | |
| XM_006719317.2:c.764T>C | XP_006719380.1:p.Leu255Pro | |
| XM_006719318.2:c.455T>C | XP_006719381.1:p.Leu152Pro | |
| XR_429088.1:n.1440T>C | ||
| XM_024448910.1:c.1277T>C | XP_024304678.1:p.Leu426Pro | |
| XM_024448911.1:c.764T>C | XP_024304679.1:p.Leu255Pro | |
| XM_024448912.1:c.455T>C | XP_024304680.1:p.Leu152Pro | |
| NM_012463.4:c.1277T>C MANE Select | NP_036595.2:p.Leu426Pro |