Linked Data
dbSNP Id:
rs28933990
gnomAD v2:
15-89754025-G-C
gnomAD v3:
15-89210794-G-C
gnomAD v4:
15-89210794-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89210794G>C , CM000677.2:g.89210794G>C | GRCh38 |
| NC_000015.9:g.89754025G>C , CM000677.1:g.89754025G>C | GRCh37 |
| NC_000015.8:g.87555029G>C | NCBI36 |
| NG_008116.1:g.15898C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000268125.10:c.700C>G MANE Select | ENSP00000268125.5:p.Arg234Gly | |
| ENST00000268125.9:c.700C>G | ENSP00000268125.5:p.Arg234Gly | |
| ENST00000563254.1:c.102-30C>G | ||
| ENST00000567787.1:c.*278C>G | ENSP00000457251.1:n.*278C>G | |
| NM_000326.4:c.700C>G | NP_000317.1:p.Arg234Gly | |
| XM_011521870.1:c.700C>G | XP_011520172.1:p.Arg234Gly | |
| XM_011521871.1:c.625C>G | XP_011520173.1:p.Arg209Gly | |
| XM_011521872.1:c.625C>G | XP_011520174.1:p.Arg209Gly | |
| XM_011521870.2:c.700C>G | XP_011520172.1:p.Arg234Gly | |
| XM_017022460.1:c.727C>G | XP_016877949.1:p.Arg243Gly | |
| NM_000326.5:c.700C>G MANE Select | NP_000317.1:p.Arg234Gly |