Linked Data
ClinVar Variation Id:
446886
dbSNP Id:
rs1557141862
gnomAD v2:
X-76939403-G-C
gnomAD v3:
X-77683911-G-C
gnomAD v4:
X-77683911-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.77683911G>C , CM000685.2:g.77683911G>C | GRCh38 |
| NC_000023.10:g.76939403G>C , CM000685.1:g.76939403G>C | GRCh37 |
| NC_000023.9:g.76826059G>C | NCBI36 |
| NG_008838.2:g.107311C>G | |
| NG_008838.3:g.107359C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373344.11:c.1345C>G MANE Select | ENSP00000362441.4:p.Pro449Ala | |
| ENST00000373344.9:c.1345C>G | ENSP00000362441.4:p.Pro449Ala | |
| ENST00000395603.7:c.1231C>G | ENSP00000378967.3:p.Pro411Ala | |
| ENST00000480283.5:c.*973C>G | ENSP00000480196.1:n.*973C>G | |
| ENST00000623321.3:c.1180C>G | ENSP00000485127.1:p.Pro394Ala | |
| ENST00000624032.3:c.1345C>G | ENSP00000485253.1:p.Pro449Ala | |
| ENST00000624166.3:c.1228C>G | ENSP00000485103.1:p.Pro410Ala | |
| NM_000489.4:c.1345C>G | NP_000480.3:p.Pro449Ala | |
| NM_138270.3:c.1231C>G | NP_612114.2:p.Pro411Ala | |
| XM_005262153.3:c.1342C>G | XP_005262210.2:p.Pro448Ala | |
| XM_005262154.3:c.1345C>G | XP_005262211.2:p.Pro449Ala | |
| XM_005262155.3:c.1228C>G | XP_005262212.2:p.Pro410Ala | |
| XM_005262156.3:c.1180C>G | XP_005262213.2:p.Pro394Ala | |
| XM_005262157.3:c.1228C>G | XP_005262214.2:p.Pro410Ala | |
| XM_006724666.2:c.1228C>G | XP_006724729.1:p.Pro410Ala | |
| XM_006724667.2:c.1066C>G | XP_006724730.1:p.Pro356Ala | |
| XM_006724668.2:c.1345C>G | XP_006724731.1:p.Pro449Ala | |
| XR_938400.1:n.1613C>G | ||
| NM_000489.5:c.1345C>G | NP_000480.3:p.Pro449Ala | |
| XM_005262153.5:c.1342C>G | XP_005262210.2:p.Pro448Ala | |
| XM_005262154.5:c.1345C>G | XP_005262211.2:p.Pro449Ala | |
| XM_005262155.4:c.1228C>G | XP_005262212.2:p.Pro410Ala | |
| XM_005262156.4:c.1180C>G | XP_005262213.2:p.Pro394Ala | |
| XM_005262157.5:c.1228C>G | XP_005262214.2:p.Pro410Ala | |
| XM_006724666.4:c.1228C>G | XP_006724729.1:p.Pro410Ala | |
| XM_006724667.3:c.1066C>G | XP_006724730.1:p.Pro356Ala | |
| XM_006724668.3:c.1345C>G | XP_006724731.1:p.Pro449Ala | |
| XM_017029601.2:c.1342C>G | XP_016885090.1:p.Pro448Ala | |
| XM_017029602.1:c.1225C>G | XP_016885091.1:p.Pro409Ala | |
| XM_017029603.1:c.1177C>G | XP_016885092.1:p.Pro393Ala | |
| XM_017029604.2:c.1231C>G | XP_016885093.1:p.Pro411Ala | |
| XM_017029605.1:c.1228C>G | XP_016885094.1:p.Pro410Ala | |
| XM_017029606.2:c.1114C>G | XP_016885095.1:p.Pro372Ala | |
| XM_017029607.2:c.1111C>G | XP_016885096.1:p.Pro371Ala | |
| XM_017029608.2:c.1063C>G | XP_016885097.1:p.Pro355Ala | |
| XM_017029609.1:c.1114C>G | XP_016885098.1:p.Pro372Ala | |
| XM_017029610.1:c.1111C>G | XP_016885099.1:p.Pro371Ala | |
| XM_017029611.1:c.1066C>G | XP_016885100.1:p.Pro356Ala | |
| XR_001755700.2:n.1570C>G | ||
| NM_138270.4:c.1231C>G | NP_612114.2:p.Pro411Ala | |
| NM_000489.6:c.1345C>G MANE Select | NP_000480.3:p.Pro449Ala | |
| NM_138270.5:c.1231C>G | NP_612114.2:p.Pro411Ala |