Linked Data
dbSNP Id:
rs777668601
ExAC:
5:176520416 G / C
gnomAD v2:
5-176520416-G-C
gnomAD v3:
5-177093415-G-C
gnomAD v4:
5-177093415-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177093415G>C , CM000667.2:g.177093415G>C | GRCh38 |
| NC_000005.9:g.176520416G>C , CM000667.1:g.176520416G>C | GRCh37 |
| NC_000005.8:g.176453022G>C | NCBI36 |
| NG_012067.1:g.11496G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000292408.9:c.1261G>C MANE Select | ENSP00000292408.4:p.Glu421Gln | |
| ENST00000292408.8:c.1261G>C | ENSP00000292408.4:p.Glu421Gln | |
| ENST00000393637.5:c.1141G>C | ENSP00000377254.1:p.Glu381Gln | |
| ENST00000393648.6:c.1107G>C | ENSP00000377259.2:p.Trp369Cys | |
| ENST00000502906.5:c.1261G>C | ENSP00000424960.1:p.Glu421Gln | |
| ENST00000508139.1:n.639G>C | ||
| ENST00000511076.1:c.158-3G>C | ||
| NM_001291980.1:c.1107G>C | NP_001278909.1:p.Trp369Cys | |
| NM_002011.4:c.1261G>C | NP_002002.3:p.Glu421Gln | |
| NM_022963.3:c.1141G>C | NP_075252.2:p.Glu381Gln | |
| NM_213647.2:c.1261G>C | NP_998812.1:p.Glu421Gln | |
| XM_005265838.2:c.1261G>C | XP_005265895.1:p.Glu421Gln | |
| XM_011534464.1:c.1354G>C | XP_011532766.1:p.Glu452Gln | |
| XM_011534465.1:c.943G>C | XP_011532767.1:p.Glu315Gln | |
| XR_941090.1:n.1306G>C | ||
| NM_001354984.1:c.1261G>C | NP_001341913.1:p.Glu421Gln | |
| NM_213647.3:c.1261G>C MANE Select | NP_998812.1:p.Glu421Gln | |
| NM_001291980.2:c.1107G>C | NP_001278909.1:p.Trp369Cys | |
| NM_001354984.2:c.1261G>C | NP_001341913.1:p.Glu421Gln | |
| NM_002011.5:c.1261G>C | NP_002002.3:p.Glu421Gln |