Linked Data
dbSNP Id:
rs10495471
gnomAD v2:
1-240706107-A-G
gnomAD v3:
1-240542807-A-G
gnomAD v4:
1-240542807-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.240542807A>G , CM000663.2:g.240542807A>G | GRCh38 |
| NC_000001.10:g.240706107A>G , CM000663.1:g.240706107A>G | GRCh37 |
| NC_000001.9:g.238772730A>G | NCBI36 |
| NG_053136.1:g.74566T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000318160.5:c.-1-49331T>C MANE Select | ENSP00000318650.4:n.-1-49331T>C | |
| ENST00000318160.4:c.-1-49331T>C | ENSP00000318650.4:n.-1-49331T>C | |
| NM_022469.3:c.-1-49331T>C | NP_071914.3:n.-1-49331T>C | |
| XM_011544249.1:c.-121-45210T>C | XP_011542551.1:n.-121-45210T>C | |
| XM_011544249.2:c.-121-45210T>C | XP_011542551.1:n.-121-45210T>C | |
| NM_022469.4:c.-1-49331T>C MANE Select | NP_071914.3:n.-1-49331T>C |