Linked Data
ClinVar Variation Id:
418280
ClinVar RCV Id:
RCV000484655
dbSNP Id:
rs754323928
ExAC:
18:21456358 C / G
gnomAD v2:
18-21456358-C-G
gnomAD v3:
18-23876394-C-G
gnomAD v4:
18-23876394-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.23876394C>G , CM000680.2:g.23876394C>G | GRCh38 |
| NC_000018.9:g.21456358C>G , CM000680.1:g.21456358C>G | GRCh37 |
| NC_000018.8:g.19710356C>G | NCBI36 |
| NG_007853.2:g.191797C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000269217.11:c.272C>G MANE Plus Clinical | ENSP00000269217.5:p.Ser91Ter | |
| ENST00000313654.14:c.5099C>G MANE Select | ENSP00000324532.8:p.Ser1700Ter | |
| ENST00000649721.1:c.1991C>G | ENSP00000497885.1:p.Ser664Ter | |
| ENST00000269217.10:c.272C>G | ENSP00000269217.5:p.Ser91Ter | |
| ENST00000313654.13:c.5099C>G | ENSP00000324532.8:p.Ser1700Ter | |
| ENST00000399516.7:c.5099C>G | ENSP00000382432.2:p.Ser1700Ter | |
| ENST00000587184.5:c.272C>G | ENSP00000466557.1:p.Ser91Ter | |
| NM_000227.4:c.272C>G | NP_000218.3:p.Ser91Ter | |
| NM_001127717.2:c.5099C>G | NP_001121189.2:p.Ser1700Ter | |
| NM_001127718.2:c.272C>G | NP_001121190.2:p.Ser91Ter | |
| NM_198129.2:c.5099C>G | NP_937762.2:p.Ser1700Ter | |
| XM_011525978.1:c.5126C>G | XP_011524280.1:p.Ser1709Ter | |
| XM_011525979.1:c.5117C>G | XP_011524281.1:p.Ser1706Ter | |
| XM_011525980.1:c.5108C>G | XP_011524282.1:p.Ser1703Ter | |
| XM_011525981.1:c.4994C>G | XP_011524283.1:p.Ser1665Ter | |
| XM_011525982.1:c.5126C>G | XP_011524284.1:p.Ser1709Ter | |
| XM_011525978.2:c.5126C>G | XP_011524280.1:p.Ser1709Ter | |
| XM_011525979.2:c.5117C>G | XP_011524281.1:p.Ser1706Ter | |
| XM_011525980.2:c.5108C>G | XP_011524282.1:p.Ser1703Ter | |
| XM_011525981.2:c.4994C>G | XP_011524283.1:p.Ser1665Ter | |
| XM_011525982.2:c.5126C>G | XP_011524284.1:p.Ser1709Ter | |
| XM_017025743.1:c.2978C>G | XP_016881232.1:p.Ser993Ter | |
| XM_017025744.1:c.668C>G | XP_016881233.1:p.Ser223Ter | |
| XR_001753199.1:n.5367C>G | ||
| NM_000227.5:c.272C>G | NP_000218.3:p.Ser91Ter | |
| NM_001127717.3:c.5099C>G | NP_001121189.2:p.Ser1700Ter | |
| NM_001127718.3:c.272C>G | NP_001121190.2:p.Ser91Ter | |
| NM_198129.3:c.5099C>G | NP_937762.2:p.Ser1700Ter | |
| NM_000227.6:c.272C>G MANE Plus Clinical | NP_000218.3:p.Ser91Ter | |
| NM_001127717.4:c.5099C>G | NP_001121189.2:p.Ser1700Ter | |
| NM_001127718.4:c.272C>G | NP_001121190.2:p.Ser91Ter | |
| NM_198129.4:c.5099C>G MANE Select | NP_937762.2:p.Ser1700Ter |