Linked Data
dbSNP Id:
rs753934157
ExAC:
9:75435808 T / C
gnomAD v2:
9-75435808-T-C
gnomAD v4:
9-72820892-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.72820892T>C , CM000671.2:g.72820892T>C | GRCh38 |
| NC_000009.11:g.75435808T>C , CM000671.1:g.75435808T>C | GRCh37 |
| NC_000009.10:g.74625628T>C | NCBI36 |
| NG_008213.1:g.304092T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297784.10:c.1814T>C MANE Select | ENSP00000297784.6:p.Leu605Pro | |
| ENST00000644967.1:c.*254T>C | ENSP00000496159.1:n.*254T>C | |
| ENST00000645053.1:c.1258-5977T>C | ENSP00000493838.1:n.1258-5977T>C | |
| ENST00000645208.2:c.1814T>C | ENSP00000494684.1:p.Leu605Pro | |
| ENST00000645773.1:c.1688T>C | ENSP00000493698.1:p.Leu563Pro | |
| ENST00000645787.1:n.1957T>C | ||
| ENST00000646619.1:c.1376T>C | ENSP00000493726.1:p.Leu459Pro | |
| ENST00000651183.1:c.1376T>C | ENSP00000498723.1:p.Leu459Pro | |
| ENST00000297784.9:c.1814T>C | ENSP00000297784.5:p.Leu605Pro | |
| ENST00000340019.4:c.1814T>C | ENSP00000341433.3:p.Leu605Pro | |
| ENST00000469455.1:n.295T>C | ||
| ENST00000486417.5:n.712T>C | ||
| NM_138691.2:c.1814T>C | NP_619636.2:p.Leu605Pro | |
| XM_011518213.1:c.2402T>C | XP_011516515.1:p.Leu801Pro | |
| XM_017014256.1:c.1817T>C | XP_016869745.1:p.Leu606Pro | |
| NM_138691.3:c.1814T>C MANE Select | NP_619636.2:p.Leu605Pro |