Linked Data
ClinVar Variation Id:
323556
ClinVar RCV Id:
RCV000381188
dbSNP Id:
rs371050454
ExAC:
17:42457960 G / A
gnomAD v2:
17-42457960-G-A
gnomAD v3:
17-44380592-G-A
gnomAD v4:
17-44380592-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44380592G>A , CM000679.2:g.44380592G>A | GRCh38 |
| NC_000017.10:g.42457960G>A , CM000679.1:g.42457960G>A | GRCh37 |
| NC_000017.9:g.39813486G>A | NCBI36 |
| NG_008331.1:g.13914C>T , LRG_479:g.13914C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262407.6:c.1439+8C>T MANE Select | ENSP00000262407.5:n.1439+8C>T | |
| ENST00000648408.1:c.870+8C>T | ||
| ENST00000262407.5:c.1439+8C>T | ENSP00000262407.5:n.1439+8C>T | |
| ENST00000592226.5:n.912+8C>T | ||
| ENST00000592462.5:n.234+8C>T | ||
| NM_000419.3:c.1439+8C>T , LRG_479t1:c.1439+8C>T | NP_000410.2:n.1439+8C>T | |
| XM_011524749.1:c.1439+8C>T | XP_011523051.1:n.1439+8C>T | |
| XM_011524750.1:c.1439+8C>T | XP_011523052.1:n.1439+8C>T | |
| NM_000419.4:c.1439+8C>T | NP_000410.2:n.1439+8C>T | |
| NM_000419.5:c.1439+8C>T MANE Select | NP_000410.2:n.1439+8C>T |