Linked Data
dbSNP Id:
rs1253007273
gnomAD v2:
8-19809600-T-G
gnomAD v3:
8-19952089-T-G
gnomAD v4:
8-19952089-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19952089T>G , CM000670.2:g.19952089T>G | GRCh38 |
| NC_000008.10:g.19809600T>G , CM000670.1:g.19809600T>G | GRCh37 |
| NC_000008.9:g.19853880T>G | NCBI36 |
| NG_008855.1:g.18019T>G | |
| NG_008855.2:g.55373T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.429+141T>G MANE Select | ENSP00000497642.1:n.429+141T>G | |
| ENST00000311322.8:c.429+141T>G | ENSP00000309757.6:n.429+141T>G | |
| ENST00000520959.5:c.201+141T>G | ENSP00000428496.1:n.201+141T>G | |
| NM_000237.2:c.429+141T>G | NP_000228.1:n.429+141T>G | |
| NM_000237.3:c.429+141T>G MANE Select | NP_000228.1:n.429+141T>G |