Linked Data
ClinVar Variation Id:
329583
dbSNP Id:
rs560019290
gnomAD v2:
19-46051175-G-A
gnomAD v3:
19-45547917-G-A
gnomAD v4:
19-45547917-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45547917G>A , CM000681.2:g.45547917G>A | GRCh38 |
| NC_000019.9:g.46051175G>A , CM000681.1:g.46051175G>A | GRCh37 |
| NC_000019.8:g.50743015G>A | NCBI36 |
| NG_013332.1:g.41948C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323060.4:c.143-18461C>T | ENSP00000319817.3:n.143-18461C>T | |
| ENST00000263275.5:c.*5597C>T MANE Select | ENSP00000263275.4:n.*5597C>T | |
| ENST00000263275.4:c.*5597C>T | ENSP00000263275.3:n.*5597C>T | |
| ENST00000323060.3:c.143-18461C>T | ENSP00000319817.3:n.143-18461C>T | |
| NM_001017989.2:c.143-18461C>T | NP_001017989.2:n.143-18461C>T | |
| NM_025136.3:c.*5597C>T | NP_079412.1:n.*5597C>T | |
| XM_011527348.1:c.-17-18461C>T | XP_011525650.1:n.-17-18461C>T | |
| NM_001017989.3:c.143-18461C>T | NP_001017989.2:n.143-18461C>T | |
| NM_025136.4:c.*5597C>T MANE Select | NP_079412.1:n.*5597C>T |