Linked Data
ClinVar Variation Id:
715021
ClinVar RCV Id:
RCV000887429
dbSNP Id:
rs58152081
ExAC:
10:58119440 G / A
gnomAD v2:
10-58119440-G-A
gnomAD v3:
10-56359679-G-A
gnomAD v4:
10-56359679-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.56359679G>A , CM000672.2:g.56359679G>A | GRCh38 |
| NC_000010.10:g.58119440G>A , CM000672.1:g.58119440G>A | GRCh37 |
| NC_000010.9:g.57789446G>A | NCBI36 |
| NG_033939.1:g.6595C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373944.8:c.423+8C>T MANE Select | ENSP00000363055.3:n.423+8C>T | |
| ENST00000318387.6:c.63+8C>T | ENSP00000322850.2:n.63+8C>T | |
| ENST00000361148.6:c.423+8C>T | ENSP00000354921.6:n.423+8C>T | |
| ENST00000373944.7:c.423+8C>T | ENSP00000363055.3:n.423+8C>T | |
| ENST00000395405.5:c.423+8C>T | ENSP00000378801.1:n.423+8C>T | |
| ENST00000460654.5:n.45+8C>T | ||
| ENST00000467523.1:n.369+8C>T | ||
| ENST00000478181.5:n.292+8C>T | ||
| ENST00000489649.6:c.*427+8C>T | ENSP00000473330.1:n.*427+8C>T | |
| ENST00000494312.5:n.761+8C>T | ||
| NM_001005413.1:c.423+8C>T | NP_001005413.1:n.423+8C>T | |
| NM_007057.3:c.423+8C>T | NP_008988.2:n.423+8C>T | |
| NM_032997.2:c.423+8C>T | NP_127490.1:n.423+8C>T | |
| XR_428692.2:n.489+8C>T | ||
| XM_017015605.2:c.423+8C>T | XP_016871094.1:n.423+8C>T | |
| XM_024447784.1:c.423+8C>T | XP_024303552.1:n.423+8C>T | |
| XR_428692.3:n.459+8C>T | ||
| NM_007057.4:c.423+8C>T MANE Select | NP_008988.2:n.423+8C>T | |
| NM_032997.3:c.423+8C>T | NP_127490.1:n.423+8C>T |