ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.51153313T>C , CM000672.2:g.51153313T>C | GRCh38 |
| NC_000010.10:g.52913073T>C , CM000672.1:g.52913073T>C | GRCh37 |
| NC_000010.9:g.52583079T>C | NCBI36 |
| NG_029982.1:g.167163T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373976.9:c.461T>C | ENSP00000363087.4:p.Leu154Pro | |
| ENST00000373980.11:c.461T>C MANE Select | ENSP00000363092.5:p.Leu154Pro | |
| ENST00000401604.8:c.416T>C | ENSP00000384200.4:p.Leu139Pro | |
| ENST00000643582.1:c.461T>C | ENSP00000495279.1:p.Leu154Pro | |
| ENST00000643704.1:c.461T>C | ENSP00000496551.1:p.Leu154Pro | |
| ENST00000645324.1:c.461T>C | ENSP00000494124.1:p.Leu154Pro | |
| ENST00000373976.8:c.35T>C | ENSP00000363087.3:p.Leu12Pro | |
| ENST00000373980.8:c.461T>C | ENSP00000363092.4:p.Leu154Pro | |
| ENST00000373985.5:c.416T>C | ENSP00000363097.2:p.Leu139Pro | |
| NM_001098512.2:c.416T>C | NP_001091982.1:p.Leu139Pro | |
| NM_006258.3:c.461T>C | NP_006249.1:p.Leu154Pro | |
| XM_011539952.1:c.461T>C | XP_011538254.1:p.Leu154Pro | |
| NM_001098512.3:c.416T>C | NP_001091982.1:p.Leu139Pro | |
| NM_006258.4:c.461T>C MANE Select | NP_006249.1:p.Leu154Pro | |
| XM_011539952.2:c.461T>C | XP_011538254.1:p.Leu154Pro | |
| XM_017016412.1:c.176T>C | XP_016871901.1:p.Leu59Pro | |
| XM_017016413.1:c.158T>C | XP_016871902.1:p.Leu53Pro | |
| NM_001374782.1:c.461T>C | NP_001361711.1:p.Leu154Pro |