Linked Data
ClinVar Variation Id:
2974472
ClinVar RCV Id:
RCV003836110
dbSNP Id:
rs377328162
ExAC:
19:11537106 G / A
gnomAD v2:
19-11537106-G-A
gnomAD v3:
19-11426286-G-A
gnomAD v4:
19-11426286-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11426286G>A , CM000681.2:g.11426286G>A | GRCh38 |
| NC_000019.9:g.11537106G>A , CM000681.1:g.11537106G>A | GRCh37 |
| NC_000019.8:g.11398106G>A | NCBI36 |
| NG_041777.1:g.14497C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356392.9:c.841-20C>T MANE Select | ENSP00000348757.3:n.841-20C>T | |
| ENST00000356392.8:c.841-20C>T | ENSP00000348757.3:n.841-20C>T | |
| ENST00000586836.5:c.268-20C>T | ENSP00000467429.1:n.268-20C>T | |
| ENST00000591179.5:c.661-20C>T | ENSP00000466800.1:n.661-20C>T | |
| ENST00000591345.5:c.*760-20C>T | ENSP00000467313.1:n.*760-20C>T | |
| NM_001302453.1:c.679-20C>T | NP_001289382.1:n.679-20C>T | |
| NM_001302454.1:c.661-20C>T | NP_001289383.1:n.661-20C>T | |
| NM_145045.4:c.841-20C>T | NP_659482.3:n.841-20C>T | |
| XM_017026241.1:c.841-20C>T | XP_016881730.1:n.841-20C>T | |
| NM_145045.5:c.841-20C>T MANE Select | NP_659482.3:n.841-20C>T | |
| NM_001302454.2:c.661-20C>T | NP_001289383.1:n.661-20C>T |