Linked Data
dbSNP Id:
rs1559384732
gnomAD v2:
2-238462766-G-A
gnomAD v3:
2-237554123-G-A
gnomAD v4:
2-237554123-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237554123G>A , CM000664.2:g.237554123G>A | GRCh38 |
| NC_000002.11:g.238462766G>A , CM000664.1:g.238462766G>A | GRCh37 |
| NC_000002.10:g.238127505G>A | NCBI36 |
| NG_007286.1:g.71837G>A , LRG_83:g.71837G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264605.8:c.*531G>A MANE Select | ENSP00000264605.3:n.*531G>A | |
| ENST00000264605.7:c.*531G>A | ENSP00000264605.3:n.*531G>A | |
| NM_001042467.2:c.*531G>A | NP_001035932.1:n.*531G>A | |
| NM_001281473.1:c.*531G>A | NP_001268402.1:n.*531G>A | |
| NM_001281474.1:c.*531G>A | NP_001268403.1:n.*531G>A | |
| NM_024101.6:c.*531G>A | NP_077006.1:n.*531G>A | |
| NR_104019.1:n.2766G>A | ||
| NM_024101.7:c.*531G>A MANE Select | NP_077006.1:n.*531G>A | |
| NM_001042467.3:c.*531G>A | NP_001035932.1:n.*531G>A | |
| NM_001281473.2:c.*531G>A | NP_001268402.1:n.*531G>A | |
| NM_001281474.2:c.*531G>A | NP_001268403.1:n.*531G>A | |
| NR_104019.2:n.2734G>A |