Linked Data
dbSNP Id:
rs1302249943
gnomAD v2:
1-202097419-T-C
gnomAD v3:
1-202128291-T-C
gnomAD v4:
1-202128291-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.202128291T>C , CM000663.2:g.202128291T>C | GRCh38 |
| NC_000001.10:g.202097419T>C , CM000663.1:g.202097419T>C | GRCh37 |
| NC_000001.9:g.200364042T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682422.1:n.762T>C | ||
| ENST00000682545.1:c.*187T>C | ENSP00000508402.1:n.*187T>C | |
| ENST00000682887.1:c.1582T>C | ENSP00000506946.1:n.1582T>C | |
| ENST00000683302.1:c.1112T>C | ENSP00000507885.1:p.Leu371Pro | |
| ENST00000683557.1:c.*13T>C | ENSP00000508029.1:n.*13T>C | |
| ENST00000367282.6:c.1181T>C MANE Select | ENSP00000356251.4:p.Leu394Pro | |
| ENST00000367282.5:c.1181T>C | ENSP00000356251.4:p.Leu394Pro | |
| NM_004767.3:c.1181T>C | NP_004758.3:p.Leu394Pro | |
| XM_011510158.1:c.620T>C | XP_011508460.1:p.Leu207Pro | |
| NM_004767.4:c.1181T>C | NP_004758.3:p.Leu394Pro | |
| XM_011510158.2:c.620T>C | XP_011508460.1:p.Leu207Pro | |
| NM_004767.5:c.1181T>C MANE Select | NP_004758.3:p.Leu394Pro |