Linked Data
ClinVar Variation Id:
1150441
ClinVar RCV Id:
RCV001491055
dbSNP Id:
rs1222484954
gnomAD v2:
2-169788959-T-C
gnomAD v4:
2-168932449-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.168932449T>C , CM000664.2:g.168932449T>C | GRCh38 |
| NC_000002.11:g.169788959T>C , CM000664.1:g.169788959T>C | GRCh37 |
| NC_000002.10:g.169497205T>C | NCBI36 |
| NG_007374.1:g.103875A>G | |
| NG_007374.2:g.103948A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649448.1:c.1458A>G | ENSP00000497165.1:p.Ser486= | |
| ENST00000650372.1:c.3141A>G MANE Select | ENSP00000497931.1:p.Ser1047= | |
| ENST00000263817.6:c.3141A>G | ENSP00000263817.6:p.Ser1047= | |
| ENST00000439188.1:c.1830A>G | ENSP00000416058.1:n.1830A>G | |
| NM_003742.2:c.3141A>G | NP_003733.2:p.Ser1047= | |
| XM_006712817.2:c.3183A>G | XP_006712880.1:p.Ser1061= | |
| XM_011512077.1:c.3243A>G | XP_011510379.1:p.Ser1081= | |
| XM_011512078.1:c.3243A>G | XP_011510380.1:p.Ser1081= | |
| XM_011512079.1:c.3243A>G | XP_011510381.1:p.Ser1081= | |
| XM_011512081.1:c.1467A>G | XP_011510383.1:p.Ser489= | |
| NM_003742.4:c.3141A>G MANE Select | NP_003733.2:p.Ser1047= | |
| XM_006712817.3:c.3183A>G | XP_006712880.1:p.Ser1061= | |
| XM_011512077.2:c.3243A>G | XP_011510379.1:p.Ser1081= | |
| XM_011512078.2:c.3243A>G | XP_011510380.1:p.Ser1081= | |
| XM_011512081.2:c.1467A>G | XP_011510383.1:p.Ser489= | |
| XM_017005165.1:c.3243A>G | XP_016860654.1:p.Ser1081= | |
| XM_017005166.1:c.2472A>G | XP_016860655.1:p.Ser824= | |
| XM_017005167.1:c.1926A>G | XP_016860656.1:p.Ser642= |