Linked Data
dbSNP Id:
rs765646318
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50523566G>A , CM000684.2:g.50523566G>A | GRCh38 |
| NC_000022.10:g.50961995G>A , CM000684.1:g.50961995G>A | GRCh37 |
| NC_000022.9:g.49308861G>A | NCBI36 |
| NG_016235.1:g.7874C>T | |
| NG_021419.1:g.20351G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000420993.7:c.*191G>A MANE Select | ENSP00000410088.2:n.*191G>A | |
| NM_001185011.1:c.*191G>A | NP_001171940.1:n.*191G>A | |
| NM_152299.3:c.*191G>A | NP_689512.2:n.*191G>A | |
| XR_001755232.1:n.2219G>A | ||
| NM_152299.4:c.*191G>A MANE Select | NP_689512.2:n.*191G>A | |
| NM_001185011.2:c.*191G>A | NP_001171940.1:n.*191G>A |