Linked Data
ClinVar Variation Id:
515989
ClinVar RCV Id:
RCV000611874
dbSNP Id:
rs148572384
ExAC:
5:78322421 G / A
gnomAD v2:
5-78322421-G-A
gnomAD v3:
5-79026598-G-A
gnomAD v4:
5-79026598-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.79026598G>A , CM000667.2:g.79026598G>A | GRCh38 |
| NC_000005.9:g.78322421G>A , CM000667.1:g.78322421G>A | GRCh37 |
| NC_000005.8:g.78358177G>A | NCBI36 |
| NG_012164.1:g.48029C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255189.8:c.2033-17C>T MANE Select | ENSP00000255189.3:n.2033-17C>T | |
| ENST00000255189.7:c.2033-17C>T | ENSP00000255189.3:n.2033-17C>T | |
| ENST00000517853.5:c.*795-17C>T | ENSP00000428995.1:n.*795-17C>T | |
| ENST00000518477.5:c.*1267-17C>T | ENSP00000427834.1:n.*1267-17C>T | |
| ENST00000523201.1:n.438-17C>T | ||
| ENST00000523732.1:c.1550-17C>T | ENSP00000430972.1:n.1550-17C>T | |
| NM_013391.3:c.2033-17C>T MANE Select | NP_037523.2:n.2033-17C>T | |
| NR_104002.1:n.1618-17C>T | ||
| NR_104003.1:n.1170-17C>T | ||
| XM_006714597.1:c.2033-17C>T | XP_006714660.1:n.2033-17C>T | |
| XM_011543354.1:c.2033-17C>T | XP_011541656.1:n.2033-17C>T | |
| XM_011543355.1:c.2033-17C>T | XP_011541657.1:n.2033-17C>T | |
| XM_006714597.2:c.2033-17C>T | XP_006714660.1:n.2033-17C>T | |
| XM_011543355.2:c.2033-17C>T | XP_011541657.1:n.2033-17C>T | |
| NR_104002.2:n.1618-17C>T | ||
| NR_104003.2:n.1170-17C>T | ||
| NR_104002.3:n.1618-17C>T | ||
| NR_104003.3:n.1170-17C>T |