Linked Data
dbSNP Id:
rs1179455074
gnomAD v2:
17-61574615-T-C
gnomAD v3:
17-63497254-T-C
gnomAD v4:
17-63497254-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63497254T>C , CM000679.2:g.63497254T>C | GRCh38 |
| NC_000017.10:g.61574615T>C , CM000679.1:g.61574615T>C | GRCh37 |
| NC_000017.9:g.58928347T>C | NCBI36 |
| NG_011648.1:g.25182T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290866.10:c.3809T>C MANE Select | ENSP00000290866.4:p.Leu1270Pro | |
| ENST00000290863.10:c.2087T>C | ENSP00000290863.6:p.Leu696Pro | |
| ENST00000290866.9:c.3809T>C | ENSP00000290866.4:p.Leu1270Pro | |
| ENST00000413513.7:c.1964T>C | ENSP00000392247.3:p.Leu655Pro | |
| ENST00000428043.5:c.*231T>C | ENSP00000397593.2:n.*231T>C | |
| ENST00000577647.2:c.1969+269T>C | ENSP00000464149.1:n.1969+269T>C | |
| ENST00000578839.5:c.*1564T>C | ENSP00000462110.2:n.*1564T>C | |
| ENST00000579314.5:c.*1538T>C | ENSP00000462599.1:n.*1538T>C | |
| NM_000789.3:c.3809T>C | NP_000780.1:p.Leu1270Pro | |
| NM_001178057.1:c.1964T>C | NP_001171528.1:p.Leu655Pro | |
| NM_152830.2:c.2087T>C | NP_690043.1:p.Leu696Pro | |
| XM_005257110.1:c.3260T>C | XP_005257167.1:p.Leu1087Pro | |
| XM_006721737.2:c.2147T>C | XP_006721800.2:p.Leu716Pro | |
| XM_006721737.3:c.2147T>C | XP_006721800.2:p.Leu716Pro | |
| NM_000789.4:c.3809T>C MANE Select | NP_000780.1:p.Leu1270Pro | |
| NM_001178057.2:c.1964T>C | NP_001171528.1:p.Leu655Pro | |
| NM_152830.3:c.2087T>C | NP_690043.1:p.Leu696Pro | |
| NM_001382700.1:c.3242T>C | NP_001369629.1:p.Leu1081Pro | |
| NM_001382701.1:c.2957T>C | NP_001369630.1:p.Leu986Pro | |
| NM_001382702.1:c.1424T>C | NP_001369631.1:p.Leu475Pro | |
| NR_168483.1:n.2187T>C |