Linked Data
ClinVar Variation Id:
377310
ClinVar RCV Id:
RCV000419060
dbSNP Id:
rs1057520191
COSMIC:
COSM6209530
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3736690A>G , CM000678.2:g.3736690A>G | GRCh38 |
| NC_000016.9:g.3786691A>G , CM000678.1:g.3786691A>G | GRCh37 |
| NC_000016.8:g.3726692A>G | NCBI36 |
| NG_009873.1:g.148431T>C | |
| NG_009873.2:g.149024T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.4520T>C MANE Select | ENSP00000262367.5:p.Leu1507Pro | |
| ENST00000262367.9:c.4520T>C | ENSP00000262367.5:p.Leu1507Pro | |
| ENST00000382070.7:c.4406T>C | ENSP00000371502.3:p.Leu1469Pro | |
| ENST00000570939.2:c.3155T>C | ENSP00000461002.2:p.Leu1052Pro | |
| ENST00000571763.5:n.310T>C | ||
| ENST00000574740.1:n.341T>C | ||
| ENST00000576720.1:n.3343T>C | ||
| NM_001079846.1:c.4406T>C | NP_001073315.1:p.Leu1469Pro | |
| NM_004380.2:c.4520T>C | NP_004371.2:p.Leu1507Pro | |
| XM_005255124.3:c.4475T>C | XP_005255181.1:p.Leu1492Pro | |
| XM_005255125.3:c.4103T>C | XP_005255182.1:p.Leu1368Pro | |
| XM_006720848.2:c.4259T>C | XP_006720911.1:p.Leu1420Pro | |
| XM_011522380.1:c.4466T>C | XP_011520682.1:p.Leu1489Pro | |
| XM_011522381.1:c.3767T>C | XP_011520683.1:p.Leu1256Pro | |
| XM_005255124.4:c.4475T>C | XP_005255181.1:p.Leu1492Pro | |
| XM_005255125.4:c.4103T>C | XP_005255182.1:p.Leu1368Pro | |
| XM_006720848.3:c.4259T>C | XP_006720911.1:p.Leu1420Pro | |
| XM_011522381.2:c.3767T>C | XP_011520683.1:p.Leu1256Pro | |
| XM_017022944.1:c.4514T>C | XP_016878433.1:p.Leu1505Pro | |
| NM_004380.3:c.4520T>C MANE Select | NP_004371.2:p.Leu1507Pro |