Linked Data
dbSNP Id:
rs770601263
ExAC:
8:19811784 T / G
gnomAD v2:
8-19811784-T-G
gnomAD v4:
8-19954273-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19954273T>G , CM000670.2:g.19954273T>G | GRCh38 |
| NC_000008.10:g.19811784T>G , CM000670.1:g.19811784T>G | GRCh37 |
| NC_000008.9:g.19856064T>G | NCBI36 |
| NG_008855.1:g.20203T>G | |
| NG_008855.2:g.57557T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000650287.1:c.695T>G MANE Select | ENSP00000497642.1:p.Ile232Ser | |
| ENST00000311322.8:c.695T>G | ENSP00000309757.6:p.Ile232Ser | |
| NM_000237.2:c.695T>G | NP_000228.1:p.Ile232Ser | |
| NM_000237.3:c.695T>G MANE Select | NP_000228.1:p.Ile232Ser |