Linked Data
ClinVar Variation Id:
2197
ClinVar RCV Id:
RCV000002281
dbSNP Id:
rs28940306
ExAC:
19:50774681 C / T
gnomAD v2:
19-50774681-C-T
MyVariant Identifiers:
chr19:g.50774681C>T (hg19)
chr19:g.50774681_50774682delinsTT (hg19)
chr19:g.50271424C>T (hg38)
PubMed:
PMID:15015131
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.50271424C>T , CM000681.2:g.50271424C>T | GRCh38 |
| NC_000019.9:g.50774681C>T , CM000681.1:g.50774681C>T | GRCh37 |
| NC_000019.8:g.55466493C>T | NCBI36 |
| NG_011645.1:g.72797C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000425460.6:c.2950C>T | ENSP00000407879.1:p.Leu984Phe | |
| ENST00000642316.2:c.3049C>T MANE Select | ENSP00000493594.1:p.Leu1017Phe | |
| ENST00000262269.12:c.-63C>T | ENSP00000262269.9:n.-63C>T | |
| ENST00000376970.6:c.2926C>T | ENSP00000366169.3:p.Leu976Phe | |
| ENST00000425460.5:c.2950C>T | ENSP00000407879.1:p.Leu984Phe | |
| ENST00000440075.6:c.-727-4567C>T | ENSP00000406273.3:n.-727-4567C>T | |
| ENST00000596571.5:c.2926C>T | ENSP00000472819.1:p.Leu976Phe | |
| ENST00000598205.5:c.2950C>T | ENSP00000472543.1:p.Leu984Phe | |
| ENST00000599920.5:c.2950C>T | ENSP00000469573.1:p.Leu984Phe | |
| ENST00000601313.5:c.3049C>T | ENSP00000470298.1:p.Leu1017Phe | |
| NM_001077186.1:c.2950C>T | NP_001070654.1:p.Leu984Phe | |
| NM_001145809.1:c.3049C>T | NP_001139281.1:p.Leu1017Phe | |
| NM_024729.3:c.2926C>T | NP_079005.3:p.Leu976Phe | |
| XM_006723386.2:c.2950C>T | XP_006723449.1:p.Leu984Phe | |
| XM_011527320.1:c.3070C>T | XP_011525622.1:p.Leu1024Phe | |
| XM_011527321.1:c.3046C>T | XP_011525623.1:p.Leu1016Phe | |
| XM_011527322.1:c.2974C>T | XP_011525624.1:p.Leu992Phe | |
| XM_011527323.1:c.2950C>T | XP_011525625.1:p.Leu984Phe | |
| XM_006723386.4:c.2950C>T | XP_006723449.1:p.Leu984Phe | |
| XM_011527320.2:c.3070C>T | XP_011525622.1:p.Leu1024Phe | |
| XM_011527321.2:c.3046C>T | XP_011525623.1:p.Leu1016Phe | |
| XM_011527323.2:c.2950C>T | XP_011525625.1:p.Leu984Phe | |
| XM_024451721.1:c.2926C>T | XP_024307489.1:p.Leu976Phe | |
| NM_001077186.2:c.2950C>T | NP_001070654.1:p.Leu984Phe | |
| NM_001145809.2:c.3049C>T MANE Select | NP_001139281.1:p.Leu1017Phe | |
| NM_024729.4:c.2926C>T | NP_079005.3:p.Leu976Phe |