Linked Data
ClinVar Variation Id:
402946
dbSNP Id:
rs2984694
ExAC:
1:42049032 G / A
gnomAD v2:
1-42049032-G-A
gnomAD v3:
1-41583361-G-A
gnomAD v4:
1-41583361-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.41583361G>A , CM000663.2:g.41583361G>A | GRCh38 |
| NC_000001.10:g.42049032G>A , CM000663.1:g.42049032G>A | GRCh37 |
| NC_000001.9:g.41821619G>A | NCBI36 |
| NG_030026.1:g.457565C>T | |
| NG_030026.2:g.457565C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372583.6:c.1437C>T MANE Select | ENSP00000361664.1:p.Ser479= | |
| ENST00000643665.1:c.1437C>T | ENSP00000494598.1:p.Ser479= | |
| ENST00000247584.6:c.1437C>T | ENSP00000247584.5:p.Ser479= | |
| ENST00000372583.5:c.1437C>T | ENSP00000361664.1:p.Ser479= | |
| ENST00000372584.5:c.1437C>T | ENSP00000361665.1:p.Ser479= | |
| NM_001127714.2:c.1437C>T | NP_001121186.1:p.Ser479= | |
| NM_024503.4:c.1437C>T | NP_078779.2:p.Ser479= | |
| XM_006710808.2:c.1437C>T | XP_006710871.1:p.Ser479= | |
| XM_006710809.2:c.1437C>T | XP_006710872.1:p.Ser479= | |
| XM_011541884.1:c.1437C>T | XP_011540186.1:p.Ser479= | |
| XM_011541885.1:c.1437C>T | XP_011540187.1:p.Ser479= | |
| XM_011541886.1:c.1437C>T | XP_011540188.1:p.Ser479= | |
| XM_011541887.1:c.1437C>T | XP_011540189.1:p.Ser479= | |
| XR_426625.2:n.2033C>T | ||
| XM_011541884.2:c.1437C>T | XP_011540186.1:p.Ser479= | |
| XM_011541885.3:c.1437C>T | XP_011540187.1:p.Ser479= | |
| XM_011541886.3:c.1437C>T | XP_011540188.1:p.Ser479= | |
| XM_011541887.3:c.1437C>T | XP_011540189.1:p.Ser479= | |
| XM_017001992.1:c.1437C>T | XP_016857481.1:p.Ser479= | |
| XM_017001993.2:c.1437C>T | XP_016857482.1:p.Ser479= | |
| XM_017001994.2:c.1437C>T | XP_016857483.1:p.Ser479= | |
| XM_024448789.1:c.1437C>T | XP_024304557.1:p.Ser479= | |
| XR_001737357.2:n.2929C>T | ||
| NM_024503.5:c.1437C>T MANE Select | NP_078779.2:p.Ser479= | |
| NM_001127714.3:c.1437C>T | NP_001121186.1:p.Ser479= |