Linked Data
dbSNP Id:
rs758901246
ExAC:
12:40692283 T / C
gnomAD v2:
12-40692283-T-C
gnomAD v3:
12-40298481-T-C
gnomAD v4:
12-40298481-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.40298481T>C , CM000674.2:g.40298481T>C | GRCh38 |
| NC_000012.11:g.40692283T>C , CM000674.1:g.40692283T>C | GRCh37 |
| NC_000012.10:g.38978550T>C | NCBI36 |
| NG_011709.1:g.78471T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298910.12:c.3335T>C MANE Select | ENSP00000298910.7:p.Leu1112Pro | |
| ENST00000679360.1:c.*2244T>C | ENSP00000505368.1:n.*2244T>C | |
| ENST00000680790.1:c.3080T>C | ENSP00000505335.1:p.Leu1027Pro | |
| ENST00000298910.11:c.3335T>C | ENSP00000298910.7:p.Leu1112Pro | |
| ENST00000343742.6:c.3335T>C | ENSP00000341930.2:p.Leu1112Pro | |
| ENST00000430804.5:c.379T>C | ||
| ENST00000479187.5:n.16T>C | ||
| NM_198578.3:c.3335T>C | NP_940980.3:p.Leu1112Pro | |
| XM_005268629.2:c.3335T>C | XP_005268686.1:p.Leu1112Pro | |
| XM_011537877.1:c.3335T>C | XP_011536179.1:p.Leu1112Pro | |
| XM_011537878.1:c.3335T>C | XP_011536180.1:p.Leu1112Pro | |
| XM_011537879.1:c.2132T>C | XP_011536181.1:p.Leu711Pro | |
| XM_011537880.1:c.3335T>C | XP_011536182.1:p.Leu1112Pro | |
| XM_011537881.1:c.3335T>C | XP_011536183.1:p.Leu1112Pro | |
| XM_011537882.1:c.3335T>C | XP_011536184.1:p.Leu1112Pro | |
| XM_005268629.4:c.3335T>C | XP_005268686.1:p.Leu1112Pro | |
| XM_011537877.3:c.3335T>C | XP_011536179.1:p.Leu1112Pro | |
| XM_011537881.3:c.3335T>C | XP_011536183.1:p.Leu1112Pro | |
| XM_011537882.3:c.3335T>C | XP_011536184.1:p.Leu1112Pro | |
| XM_017018786.2:c.3335T>C | XP_016874275.1:p.Leu1112Pro | |
| XM_017018787.1:c.251T>C | XP_016874276.1:p.Leu84Pro | |
| XM_017018789.2:c.3335T>C | XP_016874278.1:p.Leu1112Pro | |
| XM_024448833.1:c.2132T>C | XP_024304601.1:p.Leu711Pro | |
| XR_001748574.2:n.3577T>C | ||
| NM_198578.4:c.3335T>C MANE Select | NP_940980.4:p.Leu1112Pro |