Linked Data
dbSNP Id:
rs1647011698
gnomAD v3:
1-43338790-T-G
gnomAD v4:
1-43338790-T-G
COSMIC:
COSN7220403
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.43338790T>G , CM000663.2:g.43338790T>G | GRCh38 |
| NC_000001.10:g.43804461T>G , CM000663.1:g.43804461T>G | GRCh37 |
| NC_000001.9:g.43577048T>G | NCBI36 |
| NG_007525.1:g.5987T>G , LRG_510:g.5987T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372470.9:c.391+70T>G MANE Select | ENSP00000361548.3:n.391+70T>G | |
| ENST00000413998.7:c.370+70T>G | ENSP00000414004.3:n.370+70T>G | |
| ENST00000638732.1:n.391+70T>G | ||
| ENST00000372470.7:c.391+70T>G | ENSP00000361548.3:n.391+70T>G | |
| ENST00000413998.6:c.391+70T>G | ENSP00000414004.2:n.391+70T>G | |
| ENST00000612993.1:c.391+70T>G | ENSP00000480273.1:n.391+70T>G | |
| NM_005373.2:c.391+70T>G , LRG_510t1:c.391+70T>G | NP_005364.1:n.391+70T>G | |
| XM_011541478.1:c.370+70T>G | XP_011539780.1:n.370+70T>G | |
| XM_017001320.1:c.562+70T>G | XP_016856809.1:n.562+70T>G | |
| NM_005373.3:c.391+70T>G MANE Select | NP_005364.1:n.391+70T>G |