Linked Data
ClinVar Variation Id:
1467482
ClinVar RCV Id:
RCV001970416
dbSNP Id:
rs146182311
ExAC:
19:41847857 G / A
gnomAD v2:
19-41847857-G-A
gnomAD v3:
19-41341952-G-A
gnomAD v4:
19-41341952-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41341952G>A , CM000681.2:g.41341952G>A | GRCh38 |
| NC_000019.9:g.41847857G>A , CM000681.1:g.41847857G>A | GRCh37 |
| NC_000019.8:g.46539697G>A | NCBI36 |
| NG_013364.1:g.16975C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221930.6:c.791C>T MANE Select | ENSP00000221930.4:p.Pro264Leu | |
| ENST00000600196.2:c.712+218C>T | ENSP00000504008.1:n.712+218C>T | |
| ENST00000677934.1:c.634+2795C>T | ENSP00000504769.1:n.634+2795C>T | |
| ENST00000221930.5:c.791C>T | ENSP00000221930.4:p.Pro264Leu | |
| ENST00000598758.5:c.79C>T | ||
| ENST00000600196.1:n.172+218C>T | ||
| NM_000660.5:c.791C>T | NP_000651.3:p.Pro264Leu | |
| XM_011527242.1:c.794C>T | XP_011525544.1:p.Pro265Leu | |
| NM_000660.6:c.791C>T | NP_000651.3:p.Pro264Leu | |
| XM_011527242.2:c.794C>T | XP_011525544.1:p.Pro265Leu | |
| NM_000660.7:c.791C>T MANE Select | NP_000651.3:p.Pro264Leu |