Linked Data
ClinVar Variation Id:
164536
dbSNP Id:
rs201978571
ExAC:
17:18047111 G / A
gnomAD v2:
17-18047111-G-A
gnomAD v3:
17-18143797-G-A
gnomAD v4:
17-18143797-G-A
PubMed:
PMID:23208854
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.18143797G>A , CM000679.2:g.18143797G>A | GRCh38 |
| NC_000017.10:g.18047111G>A , CM000679.1:g.18047111G>A | GRCh37 |
| NC_000017.9:g.17987836G>A | NCBI36 |
| NG_011634.1:g.40092G>A | |
| NG_011634.2:g.40092G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647165.2:c.6046+1G>A MANE Select | ENSP00000495481.1:n.6046+1G>A | |
| ENST00000205890.9:c.6046+1G>A | ENSP00000205890.5:n.6046+1G>A | |
| ENST00000615845.4:c.6046+1G>A | ENSP00000481642.1:n.6046+1G>A | |
| NM_016239.3:c.6046+1G>A | NP_057323.3:n.6046+1G>A | |
| XM_011523917.1:c.5986+1G>A | XP_011522219.1:n.5986+1G>A | |
| XM_011523918.1:c.5986+1G>A | XP_011522220.1:n.5986+1G>A | |
| XM_011523919.1:c.5986+1G>A | XP_011522221.1:n.5986+1G>A | |
| XM_011523920.1:c.*249G>A | XP_011522222.1:n.*249G>A | |
| XM_011523921.1:c.6040+1G>A | XP_011522223.1:n.6040+1G>A | |
| XR_934037.1:n.6645+1G>A | ||
| XR_934038.1:n.6645+1G>A | ||
| XM_011523918.2:c.5986+1G>A | XP_011522220.1:n.5986+1G>A | |
| XM_017024714.2:c.5986+1G>A | XP_016880203.1:n.5986+1G>A | |
| XM_017024715.2:c.6049+1G>A | XP_016880204.1:n.6049+1G>A | |
| XM_024450780.1:c.5986+1G>A | XP_024306548.1:n.5986+1G>A | |
| XM_024450781.1:c.5986+1G>A | XP_024306549.1:n.5986+1G>A | |
| XM_024450782.1:c.*249G>A | XP_024306550.1:n.*249G>A | |
| NM_016239.4:c.6046+1G>A MANE Select | NP_057323.3:n.6046+1G>A |