Linked Data
dbSNP Id:
rs777754416
ExAC:
5:176520478 C / G
gnomAD v2:
5-176520478-C-G
gnomAD v4:
5-177093477-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177093477C>G , CM000667.2:g.177093477C>G | GRCh38 |
| NC_000005.9:g.176520478C>G , CM000667.1:g.176520478C>G | GRCh37 |
| NC_000005.8:g.176453084C>G | NCBI36 |
| NG_012067.1:g.11558C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000292408.9:c.1323C>G MANE Select | ENSP00000292408.4:p.Ser441Arg | |
| ENST00000292408.8:c.1323C>G | ENSP00000292408.4:p.Ser441Arg | |
| ENST00000393637.5:c.1203C>G | ENSP00000377254.1:p.Ser401Arg | |
| ENST00000393648.6:c.1169C>G | ENSP00000377259.2:p.Ala390Gly | |
| ENST00000502906.5:c.1323C>G | ENSP00000424960.1:p.Ser441Arg | |
| ENST00000508139.1:n.701C>G | ||
| ENST00000511076.1:c.217C>G | ||
| NM_001291980.1:c.1169C>G | NP_001278909.1:p.Ala390Gly | |
| NM_002011.4:c.1323C>G | NP_002002.3:p.Ser441Arg | |
| NM_022963.3:c.1203C>G | NP_075252.2:p.Ser401Arg | |
| NM_213647.2:c.1323C>G | NP_998812.1:p.Ser441Arg | |
| XM_005265838.2:c.1323C>G | XP_005265895.1:p.Ser441Arg | |
| XM_011534464.1:c.1416C>G | XP_011532766.1:p.Ser472Arg | |
| XM_011534465.1:c.1005C>G | XP_011532767.1:p.Ser335Arg | |
| XR_941090.1:n.1368C>G | ||
| NM_001354984.1:c.1323C>G | NP_001341913.1:p.Ser441Arg | |
| NM_213647.3:c.1323C>G MANE Select | NP_998812.1:p.Ser441Arg | |
| NM_001291980.2:c.1169C>G | NP_001278909.1:p.Ala390Gly | |
| NM_001354984.2:c.1323C>G | NP_001341913.1:p.Ser441Arg | |
| NM_002011.5:c.1323C>G | NP_002002.3:p.Ser441Arg |