Linked Data
dbSNP Id:
rs10248351
gnomAD v2:
7-88481442-T-C
gnomAD v3:
7-88852128-T-C
gnomAD v4:
7-88852128-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.88852128T>C , CM000669.2:g.88852128T>C | GRCh38 |
| NC_000007.13:g.88481442T>C , CM000669.1:g.88481442T>C | GRCh37 |
| NC_000007.12:g.88319378T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000333190.5:c.108+92044T>C MANE Select | ENSP00000329638.4:n.108+92044T>C | |
| ENST00000333190.4:c.108+92044T>C | ENSP00000329638.4:n.108+92044T>C | |
| NM_181646.3:c.108+92044T>C | NP_857597.1:n.108+92044T>C | |
| NM_181646.4:c.108+92044T>C | NP_857597.1:n.108+92044T>C | |
| NM_181646.5:c.108+92044T>C MANE Select | NP_857597.1:n.108+92044T>C |