Linked Data
dbSNP Id:
rs183125039
gnomAD v2:
9-101916221-T-G
gnomAD v3:
9-99153939-T-G
gnomAD v4:
9-99153939-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.99153939T>G , CM000671.2:g.99153939T>G | GRCh38 |
| NC_000009.11:g.101916221T>G , CM000671.1:g.101916221T>G | GRCh37 |
| NC_000009.10:g.100956042T>G | NCBI36 |
| NG_007461.1:g.53810T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000547314.6:c.*4634T>G | ENSP00000449934.2:n.*4634T>G | |
| ENST00000552573.7:c.*4634T>G | ENSP00000447182.3:n.*4634T>G | |
| ENST00000374994.9:c.*4634T>G MANE Select | ENSP00000364133.4:n.*4634T>G | |
| ENST00000374994.8:c.*4634T>G | ENSP00000364133.4:n.*4634T>G | |
| NM_001130916.1:c.*4634T>G | NP_001124388.1:n.*4634T>G | |
| NM_001130916.2:c.*4634T>G | NP_001124388.1:n.*4634T>G | |
| NM_001306210.1:c.*4634T>G | NP_001293139.1:n.*4634T>G | |
| NM_004612.2:c.*4634T>G | NP_004603.1:n.*4634T>G | |
| NM_004612.3:c.*4634T>G | NP_004603.1:n.*4634T>G | |
| NM_004612.4:c.*4634T>G MANE Select | NP_004603.1:n.*4634T>G | |
| NM_001130916.3:c.*4634T>G | NP_001124388.1:n.*4634T>G | |
| NM_001306210.2:c.*4634T>G | NP_001293139.1:n.*4634T>G |