Linked Data
ClinVar Variation Id:
513161
dbSNP Id:
rs543979506
ExAC:
16:23546205 G / A
gnomAD v2:
16-23546205-G-A
gnomAD v3:
16-23534884-G-A
gnomAD v4:
16-23534884-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23534884G>A , CM000678.2:g.23534884G>A | GRCh38 |
| NC_000016.9:g.23546205G>A , CM000678.1:g.23546205G>A | GRCh37 |
| NC_000016.8:g.23453706G>A | NCBI36 |
| NG_027752.1:g.27492C>T | |
| NG_027752.2:g.27492C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000449606.7:c.958+4C>T MANE Select | ENSP00000395196.2:n.958+4C>T | |
| ENST00000674054.1:c.958+4C>T | ENSP00000501251.1:n.958+4C>T | |
| ENST00000449606.5:c.958+4C>T | ENSP00000395196.1:n.958+4C>T | |
| ENST00000562402.1:n.562+4C>T | ||
| ENST00000563232.1:c.958+4C>T | ENSP00000456218.1:n.958+4C>T | |
| ENST00000563459.5:c.958+4C>T | ENSP00000456467.1:n.958+4C>T | |
| ENST00000564501.5:c.958+4C>T | ENSP00000457107.1:n.958+4C>T | |
| ENST00000564987.1:n.582+4C>T | ||
| ENST00000565344.1:n.331+4C>T | ||
| NM_001083614.1:c.958+4C>T | NP_001077083.1:n.958+4C>T | |
| NM_001308211.1:c.958+4C>T | NP_001295140.1:n.958+4C>T | |
| NR_003501.1:n.990+4C>T | ||
| XM_011545738.1:c.886+4C>T | XP_011544040.1:n.886+4C>T | |
| XM_011545739.1:c.679+4C>T | XP_011544041.1:n.679+4C>T | |
| XR_001751841.1:n.1280+4C>T | ||
| NM_001083614.2:c.958+4C>T MANE Select | NP_001077083.1:n.958+4C>T | |
| NR_003501.2:n.965+4C>T |