Linked Data
dbSNP Id:
rs76435245
gnomAD v2:
7-71906852-C-T
gnomAD v3:
7-72441867-C-T
gnomAD v4:
7-72441867-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.72441867C>T , CM000669.2:g.72441867C>T | GRCh38 |
| NC_000007.13:g.71906852C>T , CM000669.1:g.71906852C>T | GRCh37 |
| NC_000007.12:g.71544788C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395276.6:c.-226+5175G>A | ENSP00000378691.2:n.-226+5175G>A | |
| ENST00000431984.5:c.-8+5175G>A | ENSP00000410704.1:n.-8+5175G>A | |
| XM_011516595.1:c.-8+5175G>A | XP_011514897.1:n.-8+5175G>A | |
| NM_001363460.1:c.-8+5175G>A | NP_001350389.1:n.-8+5175G>A | |
| XM_017012675.1:c.-292+5175G>A | XP_016868164.1:n.-292+5175G>A | |
| XM_017012676.2:c.-74+5175G>A | XP_016868165.1:n.-74+5175G>A | |
| XM_017012677.1:c.2+62245G>A | XP_016868166.1:n.2+62245G>A | |
| XM_017012678.1:c.-226+5175G>A | XP_016868167.1:n.-226+5175G>A | |
| XM_017012683.1:c.-75+5175G>A | XP_016868172.1:n.-75+5175G>A |