Linked Data
dbSNP Id:
rs17145738
gnomAD v2:
7-72982874-C-T
gnomAD v3:
7-73568544-C-T
gnomAD v4:
7-73568544-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.73568544C>T , CM000669.2:g.73568544C>T | GRCh38 |
| NC_000007.13:g.72982874C>T , CM000669.1:g.72982874C>T | GRCh37 |
| NC_000007.12:g.72620810C>T | NCBI36 |
| NG_023281.1:g.15140G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000305632.11:c.*1963G>A MANE Select | ENSP00000307260.4:n.*1963G>A | |
| NM_001362660.2:c.*1963G>A | NP_001349589.1:n.*1963G>A | |
| NM_001362661.2:c.*1963G>A | NP_001349590.1:n.*1963G>A | |
| NM_001362662.2:c.*1963G>A | NP_001349591.1:n.*1963G>A | |
| NM_001362663.2:c.*1963G>A | NP_001349592.1:n.*1963G>A | |
| NM_012453.4:c.*1963G>A MANE Select | NP_036585.1:n.*1963G>A |