Linked Data
ClinVar Variation Id:
953006
ClinVar RCV Id:
RCV001225238
dbSNP Id:
rs199738595
ExAC:
17:42463108 G / A
gnomAD v2:
17-42463108-G-A
gnomAD v3:
17-44385740-G-A
gnomAD v4:
17-44385740-G-A
ERepo:
CA8603465/MONDO:0010119/011
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44385740G>A , CM000679.2:g.44385740G>A | GRCh38 |
| NC_000017.10:g.42463108G>A , CM000679.1:g.42463108G>A | GRCh37 |
| NC_000017.9:g.39818634G>A | NCBI36 |
| NG_008331.1:g.8766C>T , LRG_479:g.8766C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262407.6:c.409-24C>T MANE Select | ENSP00000262407.5:n.409-24C>T | |
| ENST00000262407.5:c.409-24C>T | ENSP00000262407.5:n.409-24C>T | |
| ENST00000592944.1:n.70C>T | ||
| NM_000419.3:c.409-24C>T , LRG_479t1:c.409-24C>T | NP_000410.2:n.409-24C>T | |
| XM_011524749.1:c.409-24C>T | XP_011523051.1:n.409-24C>T | |
| XM_011524750.1:c.409-24C>T | XP_011523052.1:n.409-24C>T | |
| NM_000419.4:c.409-24C>T | NP_000410.2:n.409-24C>T | |
| NM_000419.5:c.409-24C>T MANE Select | NP_000410.2:n.409-24C>T |