Linked Data
dbSNP Id:
rs17368582
ExAC:
11:102738075 T / C
gnomAD v2:
11-102738075-T-C
gnomAD v3:
11-102867344-T-C
gnomAD v4:
11-102867344-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.102867344T>C , CM000673.2:g.102867344T>C | GRCh38 |
| NC_000011.9:g.102738075T>C , CM000673.1:g.102738075T>C | GRCh37 |
| NC_000011.8:g.102243285T>C | NCBI36 |
| NG_032936.1:g.12691A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000571244.3:c.837A>G MANE Select | ENSP00000458585.1:p.Pro279= | |
| ENST00000571244.2:c.837A>G | ENSP00000458585.1:p.Pro279= | |
| NM_002426.4:c.837A>G | NP_002417.2:p.Pro279= | |
| NM_002426.5:c.837A>G | NP_002417.2:p.Pro279= | |
| NM_002426.6:c.837A>G MANE Select | NP_002417.2:p.Pro279= |