Linked Data
dbSNP Id:
rs6952809
gnomAD v2:
7-2448493-T-C
gnomAD v3:
7-2408858-T-C
gnomAD v4:
7-2408858-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.2408858T>C , CM000669.2:g.2408858T>C | GRCh38 |
| NC_000007.13:g.2448493T>C , CM000669.1:g.2448493T>C | GRCh37 |
| NC_000007.12:g.2415019T>C | NCBI36 |
| NG_029854.1:g.10299T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000618655.2:c.-78+5185T>C MANE Select | ENSP00000481912.1:n.-78+5185T>C | |
| ENST00000258711.7:c.-78+5213T>C | ENSP00000258711.6:n.-78+5213T>C | |
| ENST00000432336.1:c.-78+4652T>C | ENSP00000411207.1:n.-78+4652T>C | |
| ENST00000618655.1:c.-78+5185T>C | ENSP00000481912.1:n.-78+5185T>C | |
| NM_001243794.1:c.-78+5213T>C | NP_001230723.1:n.-78+5213T>C | |
| NM_001243795.1:c.-78+5199T>C | NP_001230724.1:n.-78+5199T>C | |
| NM_018641.4:c.-78+5185T>C | NP_061111.1:n.-78+5185T>C | |
| XM_011515443.1:c.-78+4652T>C | XP_011513745.1:n.-78+4652T>C | |
| XM_011515444.1:c.-78+5308T>C | XP_011513746.1:n.-78+5308T>C | |
| XM_011515443.2:c.-78+4652T>C | XP_011513745.1:n.-78+4652T>C | |
| XM_011515444.2:c.-78+5308T>C | XP_011513746.1:n.-78+5308T>C | |
| NM_018641.5:c.-78+5185T>C MANE Select | NP_061111.1:n.-78+5185T>C | |
| NM_001243794.2:c.-78+5213T>C | NP_001230723.1:n.-78+5213T>C | |
| NM_001243795.2:c.-78+5199T>C | NP_001230724.1:n.-78+5199T>C |