Linked Data
dbSNP Id:
rs762908939
ExAC:
5:90119313 G / C
gnomAD v2:
5-90119313-G-C
gnomAD v3:
5-90823496-G-C
gnomAD v4:
5-90823496-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90823496G>C , CM000667.2:g.90823496G>C | GRCh38 |
| NC_000005.9:g.90119313G>C , CM000667.1:g.90119313G>C | GRCh37 |
| NC_000005.8:g.90155069G>C | NCBI36 |
| NG_007083.1:g.269697G>C | |
| NG_007083.2:g.299153G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.16268G>C MANE Select | ENSP00000384582.2:p.Gly5423Ala | |
| ENST00000425867.3:c.5222G>C | ENSP00000392618.3:p.Gly1741Ala | |
| ENST00000638510.1:n.3535G>C | ||
| ENST00000639431.1:c.265+147287G>C | ENSP00000491057.1:n.265+147287G>C | |
| ENST00000640061.1:n.128+1314G>C | ||
| ENST00000640407.1:c.2678G>C | ENSP00000491425.1:p.Gly893Ala | |
| ENST00000405460.6:c.16268G>C | ENSP00000384582.2:p.Gly5423Ala | |
| ENST00000425867.2:c.3251G>C | ENSP00000392618.2:p.Gly1084Ala | |
| NM_032119.3:c.16268G>C | NP_115495.3:p.Gly5423Ala | |
| NR_003149.1:n.16281G>C | ||
| XM_011543675.1:c.16265G>C | XP_011541977.1:p.Gly5422Ala | |
| XM_011543676.1:c.16187G>C | XP_011541978.1:p.Gly5396Ala | |
| XM_011543677.1:c.13571G>C | XP_011541979.1:p.Gly4524Ala | |
| NM_032119.4:c.16268G>C MANE Select | NP_115495.3:p.Gly5423Ala | |
| XM_017009963.2:c.16289G>C | XP_016865452.1:p.Gly5430Ala | |
| XM_017009964.2:c.16286G>C | XP_016865453.1:p.Gly5429Ala | |
| XM_017009965.1:c.16286G>C | XP_016865454.1:p.Gly5429Ala | |
| XM_017009966.2:c.16208G>C | XP_016865455.1:p.Gly5403Ala | |
| XM_017009967.1:c.16193G>C | XP_016865456.1:p.Gly5398Ala | |
| XM_017009968.2:c.16109G>C | XP_016865457.1:p.Gly5370Ala | |
| XM_017009969.2:c.16289G>C | XP_016865458.1:p.Gly5430Ala | |
| XM_017009972.1:c.9407G>C | XP_016865461.1:p.Gly3136Ala | |
| XM_017009973.1:c.9386G>C | XP_016865462.1:p.Gly3129Ala | |
| NR_003149.2:n.16284G>C |