Linked Data
dbSNP Id:
rs11779594
gnomAD v2:
8-28181755-C-T
gnomAD v3:
8-28324238-C-T
gnomAD v4:
8-28324238-C-T
Allelic Epigenome:
Alellic Epigenome (raw data)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.28324238C>T , CM000670.2:g.28324238C>T | GRCh38 |
| NC_000008.10:g.28181755C>T , CM000670.1:g.28181755C>T | GRCh37 |
| NC_000008.9:g.28237674C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000301908.8:c.-23-4897C>T MANE Select | ENSP00000301908.3:n.-23-4897C>T | |
| ENST00000301908.7:c.-23-4897C>T | ENSP00000301908.3:n.-23-4897C>T | |
| ENST00000518479.5:c.-23-4897C>T | ENSP00000428059.1:n.-23-4897C>T | |
| NM_006228.4:c.-23-4897C>T | NP_006219.1:n.-23-4897C>T | |
| XM_005273532.1:c.-23-4897C>T | XP_005273589.1:n.-23-4897C>T | |
| XM_011544559.1:c.-23-4897C>T | XP_011542861.1:n.-23-4897C>T | |
| XM_005273532.2:c.-23-4897C>T | XP_005273589.1:n.-23-4897C>T | |
| XM_011544559.2:c.-23-4897C>T | XP_011542861.1:n.-23-4897C>T | |
| NM_006228.5:c.-23-4897C>T MANE Select | NP_006219.1:n.-23-4897C>T |