Linked Data
ClinVar Variation Id:
474995
dbSNP Id:
rs147463318
ExAC:
1:110163820 C / G
gnomAD v2:
1-110163820-C-G
gnomAD v3:
1-109621198-C-G
gnomAD v4:
1-109621198-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.109621198C>G , CM000663.2:g.109621198C>G | GRCh38 |
| NC_000001.10:g.110163820C>G , CM000663.1:g.110163820C>G | GRCh37 |
| NC_000001.9:g.109965343C>G | NCBI36 |
| NG_034075.1:g.6386C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256578.8:c.23C>G | ENSP00000256578.4:p.Ser8Cys | |
| ENST00000358729.9:c.23C>G | ENSP00000351573.5:p.Ser8Cys | |
| ENST00000369840.7:c.23C>G | ENSP00000358855.3:p.Ser8Cys | |
| ENST00000474459.6:n.448+920C>G | ||
| ENST00000486282.7:n.115C>G | ||
| ENST00000525415.2:n.281C>G | ||
| ENST00000528270.6:c.23C>G | ENSP00000434891.2:p.Ser8Cys | |
| ENST00000528667.7:c.23C>G MANE Select | ENSP00000436541.2:p.Ser8Cys | |
| ENST00000531203.6:c.-271+547C>G | ENSP00000431975.2:n.-271+547C>G | |
| ENST00000531734.6:c.10+920C>G | ENSP00000433739.2:n.10+920C>G | |
| ENST00000652975.2:c.23C>G | ENSP00000499620.2:p.Ser8Cys | |
| ENST00000655992.1:c.-102+920C>G | ENSP00000499740.1:n.-102+920C>G | |
| ENST00000659122.2:c.23C>G | ENSP00000499621.2:p.Ser8Cys | |
| ENST00000663749.1:c.23C>G | ENSP00000499739.1:p.Ser8Cys | |
| ENST00000667949.2:c.-379+920C>G | ENSP00000499465.2:n.-379+920C>G | |
| ENST00000668421.1:c.23C>G | ENSP00000499362.1:p.Ser8Cys | |
| ENST00000679379.1:c.23C>G | ENSP00000505528.1:p.Ser8Cys | |
| ENST00000679593.1:c.23C>G | ENSP00000505999.1:p.Ser8Cys | |
| ENST00000679880.1:n.281C>G | ||
| ENST00000679892.1:c.23C>G | ENSP00000504882.1:p.Ser8Cys | |
| ENST00000679981.1:c.23C>G | ENSP00000506422.1:p.Ser8Cys | |
| ENST00000680132.1:c.23C>G | ENSP00000505950.1:p.Ser8Cys | |
| ENST00000680148.1:c.23C>G | ENSP00000505994.1:p.Ser8Cys | |
| ENST00000680170.1:n.281C>G | ||
| ENST00000680192.1:n.442+920C>G | ||
| ENST00000680519.1:n.442+920C>G | ||
| ENST00000680531.1:c.23C>G | ENSP00000506332.1:p.Ser8Cys | |
| ENST00000680820.1:c.23C>G | ENSP00000505735.1:p.Ser8Cys | |
| ENST00000680832.1:c.23C>G | ENSP00000505774.1:p.Ser8Cys | |
| ENST00000680929.1:c.23C>G | ENSP00000504916.1:p.Ser8Cys | |
| ENST00000681108.1:c.23C>G | ENSP00000506701.1:p.Ser8Cys | |
| ENST00000681132.1:c.23C>G | ENSP00000506195.1:p.Ser8Cys | |
| ENST00000681181.1:c.23C>G | ENSP00000506038.1:p.Ser8Cys | |
| ENST00000681218.1:c.23C>G | ENSP00000505976.1:p.Ser8Cys | |
| ENST00000681246.1:c.23C>G | ENSP00000505534.1:p.Ser8Cys | |
| ENST00000681496.1:c.23C>G | ENSP00000505948.1:p.Ser8Cys | |
| ENST00000681834.1:n.231C>G | ||
| ENST00000681862.1:c.23C>G | ENSP00000505537.1:p.Ser8Cys | |
| ENST00000256578.7:c.185C>G | ENSP00000256578.3:p.Ser62Cys | |
| ENST00000342115.8:c.10+920C>G | ENSP00000345498.4:n.10+920C>G | |
| ENST00000358729.8:c.91C>G | ENSP00000351573.4:p.Leu31Val | |
| ENST00000369840.6:c.96C>G | ||
| ENST00000474459.5:c.-379+920C>G | ENSP00000432344.1:n.-379+920C>G | |
| ENST00000486282.6:n.84C>G | ||
| ENST00000526301.5:n.292+920C>G | ||
| ENST00000528270.5:c.47C>G | ENSP00000434891.1:p.Ser16Cys | |
| ENST00000528667.5:c.185C>G | ENSP00000436541.1:p.Ser62Cys | |
| ENST00000531203.5:c.-271+547C>G | ENSP00000431975.1:n.-271+547C>G | |
| ENST00000531734.5:c.10+920C>G | ENSP00000433739.1:n.10+920C>G | |
| NM_001257360.1:c.185C>G | NP_001244289.1:p.Ser62Cys | |
| NM_001308170.1:c.91C>G | NP_001295099.1:p.Leu31Val | |
| NM_004037.7:c.185C>G | NP_004028.3:p.Ser62Cys | |
| NM_139156.3:c.10+920C>G | NP_631895.1:n.10+920C>G | |
| XM_011541247.1:c.597+920C>G | XP_011539549.1:n.597+920C>G | |
| XM_011541248.1:c.597+920C>G | XP_011539550.1:n.597+920C>G | |
| XR_946607.1:n.620+920C>G | ||
| XM_024446431.1:c.91C>G | XP_024302199.1:p.Leu31Val | |
| XM_024446432.1:c.91C>G | XP_024302200.1:p.Leu31Val | |
| XR_002956282.1:n.727C>G | ||
| NM_001257360.2:c.185C>G | NP_001244289.1:p.Ser62Cys | |
| NM_001368809.2:c.23C>G MANE Select | NP_001355738.1:p.Ser8Cys | |
| NM_004037.9:c.23C>G | NP_004028.4:p.Ser8Cys | |
| NM_139156.4:c.10+920C>G | NP_631895.1:n.10+920C>G |