Linked Data
dbSNP Id:
rs777454624
ExAC:
4:155665858 T / C
gnomAD v2:
4-155665858-T-C
gnomAD v4:
4-154744706-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.154744706T>C , CM000666.2:g.154744706T>C | GRCh38 |
| NC_000004.11:g.155665858T>C , CM000666.1:g.155665858T>C | GRCh37 |
| NC_000004.10:g.155885308T>C | NCBI36 |
| NG_009110.1:g.5696T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336356.4:c.380T>C MANE Select | ENSP00000337224.3:p.Leu127Pro | |
| ENST00000336356.3:c.380T>C | ENSP00000337224.3:p.Leu127Pro | |
| ENST00000499392.1:n.472-3483T>C | ||
| ENST00000507827.5:c.380T>C | ENSP00000426761.1:p.Leu127Pro | |
| ENST00000510733.1:n.707T>C | ||
| NM_001301645.1:c.380T>C | NP_001288574.1:p.Leu127Pro | |
| NM_004744.4:c.380T>C | NP_004735.2:p.Leu127Pro | |
| XM_006714412.2:c.380T>C | XP_006714475.1:p.Leu127Pro | |
| XR_938793.1:n.716T>C | ||
| XR_938793.2:n.712T>C | ||
| NM_004744.5:c.380T>C MANE Select | NP_004735.2:p.Leu127Pro | |
| NM_001301645.2:c.380T>C | NP_001288574.1:p.Leu127Pro |