Linked Data
ClinVar Variation Id:
328149
ClinVar RCV Id:
RCV000283000
dbSNP Id:
rs750657898
ExAC:
19:11491875 A / G
gnomAD v2:
19-11491875-A-G
gnomAD v3:
19-11381199-A-G
gnomAD v4:
19-11381199-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11381199A>G , CM000681.2:g.11381199A>G | GRCh38 |
| NC_000019.9:g.11491875A>G , CM000681.1:g.11491875A>G | GRCh37 |
| NC_000019.8:g.11352875A>G | NCBI36 |
| NG_021395.1:g.8144T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222139.11:c.596T>C MANE Select | ENSP00000222139.5:p.Leu199Pro | |
| ENST00000222139.10:c.596T>C | ENSP00000222139.5:p.Leu199Pro | |
| ENST00000586890.5:c.*339T>C | ENSP00000467230.1:n.*339T>C | |
| ENST00000588681.5:n.981T>C | ||
| ENST00000588859.5:c.*339T>C | ENSP00000466784.1:n.*339T>C | |
| ENST00000589402.1:n.755T>C | ||
| ENST00000590927.1:n.40T>C | ||
| ENST00000591958.5:c.805T>C | ENSP00000468187.1:p.Trp269Arg | |
| ENST00000592375.6:c.596T>C | ENSP00000467809.2:p.Leu199Pro | |
| NM_000121.3:c.596T>C | NP_000112.1:p.Leu199Pro | |
| NR_033663.1:n.981T>C | ||
| NM_000121.4:c.596T>C MANE Select | NP_000112.1:p.Leu199Pro | |
| NR_033663.2:n.953T>C |