Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.23802542A>G , CM000663.2:g.23802542A>G | GRCh38 |
| NC_000001.10:g.24129032A>G , CM000663.1:g.24129032A>G | GRCh37 |
| NC_000001.9:g.24001619A>G | NCBI36 |
| NG_007068.1:g.3263T>C | |
| NG_013061.1:g.27918T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374490.8:c.899T>C MANE Select | ENSP00000363614.3:p.Leu300Pro | |
| ENST00000235958.4:c.469T>C | ||
| ENST00000374487.6:c.*940T>C | ENSP00000363611.2:n.*940T>C | |
| ENST00000374490.7:c.899T>C | ENSP00000363614.3:p.Leu300Pro | |
| ENST00000436439.6:c.686T>C | ENSP00000389281.2:p.Leu229Pro | |
| NM_000191.2:c.899T>C | NP_000182.2:p.Leu300Pro | |
| NM_001166059.1:c.686T>C | NP_001159531.1:p.Leu229Pro | |
| NM_000191.3:c.899T>C MANE Select | NP_000182.2:p.Leu300Pro | |
| NM_001166059.2:c.686T>C | NP_001159531.1:p.Leu229Pro |