Linked Data
dbSNP Id:
rs1385374
gnomAD v2:
12-129300694-C-T
gnomAD v3:
12-128816149-C-T
gnomAD v4:
12-128816149-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.128816149C>T , CM000674.2:g.128816149C>T | GRCh38 |
| NC_000012.11:g.129300694C>T , CM000674.1:g.129300694C>T | GRCh37 |
| NC_000012.10:g.127866647C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000266771.10:c.547-1079G>A MANE Select | ENSP00000266771.5:n.547-1079G>A | |
| ENST00000266771.9:c.547-1079G>A | ENSP00000266771.5:n.547-1079G>A | |
| ENST00000376740.8:c.126-1079G>A | ||
| ENST00000376744.8:c.383-1079G>A | ||
| ENST00000535272.1:n.341-1079G>A | ||
| ENST00000539703.1:n.197-1079G>A | ||
| NM_145648.3:c.547-1079G>A | NP_663623.1:n.547-1079G>A | |
| XM_011537895.1:c.697-1079G>A | XP_011536197.1:n.697-1079G>A | |
| XR_429081.2:n.570-1079G>A | ||
| XR_944494.1:n.720-1079G>A | ||
| XR_944495.1:n.720-1079G>A | ||
| XR_944496.1:n.720-1079G>A | ||
| XR_944497.1:n.720-1079G>A | ||
| XM_017018791.1:c.697-1079G>A | XP_016874280.1:n.697-1079G>A | |
| XM_017018792.1:c.697-1079G>A | XP_016874281.1:n.697-1079G>A | |
| XM_017018793.1:c.547-1079G>A | XP_016874282.1:n.547-1079G>A | |
| XR_002957287.1:n.570-1079G>A | ||
| XR_944496.2:n.720-1079G>A | ||
| NM_145648.4:c.547-1079G>A MANE Select | NP_663623.1:n.547-1079G>A |