Linked Data
dbSNP Id:
rs12542677
gnomAD v2:
8-56168059-C-T
gnomAD v3:
8-55255499-C-T
gnomAD v4:
8-55255499-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.55255499C>T , CM000670.2:g.55255499C>T | GRCh38 |
| NC_000008.10:g.56168059C>T , CM000670.1:g.56168059C>T | GRCh37 |
| NC_000008.9:g.56330613C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000327381.7:c.807-102179C>T MANE Select | ENSP00000328326.5:n.807-102179C>T | |
| ENST00000327381.6:c.807-102179C>T | ENSP00000328326.5:n.807-102179C>T | |
| ENST00000622811.1:c.804-17403C>T | ENSP00000480076.1:n.804-17403C>T | |
| NM_052898.1:c.807-102179C>T | NP_443130.1:n.807-102179C>T | |
| NM_052898.2:c.807-102179C>T MANE Select | NP_443130.1:n.807-102179C>T |