Linked Data
dbSNP Id:
rs1030420
gnomAD v2:
8-67360725-C-T
gnomAD v3:
8-66448490-C-T
gnomAD v4:
8-66448490-C-T
Allelic Epigenome:
Alellic Epigenome (raw data)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.66448490C>T , CM000670.2:g.66448490C>T | GRCh38 |
| NC_000008.10:g.67360725C>T , CM000670.1:g.67360725C>T | GRCh37 |
| NC_000008.9:g.67523279C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000396623.8:c.629-375C>T MANE Select | ENSP00000379865.3:n.629-375C>T | |
| ENST00000648156.1:c.485-375C>T | ENSP00000497007.1:n.485-375C>T | |
| ENST00000276576.11:c.*465-375C>T | ENSP00000276576.7:n.*465-375C>T | |
| ENST00000396621.7:c.*51-375C>T | ENSP00000379864.3:n.*51-375C>T | |
| ENST00000396623.7:c.629-375C>T | ENSP00000379865.3:n.629-375C>T | |
| ENST00000415254.5:c.485-375C>T | ENSP00000407115.1:n.485-375C>T | |
| ENST00000419955.5:c.*289-375C>T | ENSP00000392040.1:n.*289-375C>T | |
| ENST00000422166.5:c.354-375C>T | ENSP00000387956.1:n.354-375C>T | |
| ENST00000424777.6:c.629-375C>T | ENSP00000410883.2:n.629-375C>T | |
| ENST00000426810.5:c.*465-375C>T | ENSP00000406905.1:n.*465-375C>T | |
| ENST00000443372.5:c.*239-375C>T | ENSP00000409714.1:n.*239-375C>T | |
| ENST00000496501.5:n.503-375C>T | ||
| NM_144650.2:c.629-375C>T | NP_653251.2:n.629-375C>T | |
| NM_144650.3:c.629-375C>T MANE Select | NP_653251.2:n.629-375C>T |