Linked Data
ClinVar Variation Id:
1008878
ClinVar RCV Id:
RCV001306287
dbSNP Id:
rs977521848
gnomAD v3:
X-154412186-G-C
gnomAD v4:
X-154412186-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154412186G>C , CM000685.2:g.154412186G>C | GRCh38 |
| NC_000023.10:g.153640523G>C , CM000685.1:g.153640523G>C | GRCh37 |
| NC_000023.9:g.153293717G>C | NCBI36 |
| NG_009634.1:g.5647G>C | |
| NG_012884.2:g.4903C>G | |
| NG_009634.2:g.5652G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000698234.1:n.638G>C | ||
| ENST00000698235.1:n.197G>C | ||
| ENST00000698317.1:n.172G>C | ||
| ENST00000698318.1:n.33G>C | ||
| ENST00000475699.6:c.264G>C | ENSP00000419854.3:p.Gln88His | |
| ENST00000476800.2:n.175G>C | ||
| ENST00000483674.3:n.101G>C | ||
| ENST00000601016.6:c.210G>C MANE Select | ENSP00000469981.1:p.Gln70His | |
| ENST00000612012.5:c.210G>C | ENSP00000482070.2:p.Gln70His | |
| ENST00000612460.5:c.210G>C | ENSP00000481037.1:p.Gln70His | |
| ENST00000614595.2:n.568G>C | ||
| ENST00000615658.5:n.523G>C | ||
| ENST00000616020.5:c.264G>C | ENSP00000483636.2:p.Gln88His | |
| ENST00000617701.5:c.210G>C | ENSP00000481645.1:p.Gln70His | |
| ENST00000621647.2:n.263G>C | ||
| ENST00000652358.1:c.-57+234G>C | ENSP00000498464.1:n.-57+234G>C | |
| ENST00000652390.1:c.129G>C | ENSP00000498858.1:p.Gln43His | |
| ENST00000652476.1:n.371G>C | ||
| ENST00000652682.1:c.210G>C | ENSP00000498288.1:p.Gln70His | |
| ENST00000652685.1:n.262G>C | ||
| ENST00000369776.8:c.163+180G>C | ENSP00000358791.4:n.163+180G>C | |
| ENST00000426231.5:c.26G>C | ||
| ENST00000439735.2:c.210G>C | ENSP00000398193.1:p.Gln70His | |
| ENST00000475699.5:c.210G>C | ENSP00000419854.2:p.Gln70His | |
| ENST00000601016.5:c.210G>C | ENSP00000469981.1:p.Gln70His | |
| ENST00000612012.4:c.264G>C | ENSP00000482070.1:p.Gln88His | |
| ENST00000612460.4:c.210G>C | ENSP00000481037.1:p.Gln70His | |
| ENST00000613002.4:c.210G>C | ENSP00000478154.1:p.Gln70His | |
| ENST00000613634.4:n.530G>C | ||
| ENST00000614595.1:n.429G>C | ||
| ENST00000615658.4:n.536G>C | ||
| ENST00000615986.4:c.210G>C | ENSP00000480133.1:p.Gln70His | |
| ENST00000616020.4:c.264G>C | ENSP00000483636.1:p.Gln88His | |
| ENST00000617701.4:c.210G>C | ENSP00000481645.1:p.Gln70His | |
| ENST00000620808.4:c.210G>C | ENSP00000479311.1:p.Gln70His | |
| ENST00000621647.1:n.495G>C | ||
| NM_000116.4:c.210G>C | NP_000107.1:p.Gln70His | |
| NM_001303465.1:c.264G>C | NP_001290394.1:p.Gln88His | |
| NM_181311.3:c.210G>C | NP_851828.1:p.Gln70His | |
| NM_181312.3:c.210G>C | NP_851829.1:p.Gln70His | |
| NM_181313.3:c.210G>C | NP_851830.1:p.Gln70His | |
| NR_024048.2:n.536G>C | ||
| XM_006724836.1:c.264G>C | XP_006724899.1:p.Gln88His | |
| XM_006724837.1:c.264G>C | XP_006724900.1:p.Gln88His | |
| XM_006724839.1:c.264G>C | XP_006724902.1:p.Gln88His | |
| XM_006724841.2:c.-85G>C | XP_006724904.1:n.-85G>C | |
| XM_006724842.2:c.-85G>C | XP_006724905.1:n.-85G>C | |
| XM_011531189.1:c.264G>C | XP_011529491.1:p.Gln88His | |
| XR_938511.1:n.567G>C | ||
| XM_006724841.4:c.-85G>C | XP_006724904.1:n.-85G>C | |
| XM_006724842.4:c.-85G>C | XP_006724905.1:n.-85G>C | |
| XM_017029761.1:c.210G>C | XP_016885250.1:p.Gln70His | |
| XM_017029762.1:c.264G>C | XP_016885251.1:p.Gln88His | |
| XM_017029763.1:c.210G>C | XP_016885252.1:p.Gln70His | |
| XM_017029765.2:c.-85G>C | XP_016885254.1:n.-85G>C | |
| XM_024452431.1:c.264G>C | XP_024308199.1:p.Gln88His | |
| NM_000116.5:c.210G>C MANE Select | NP_000107.1:p.Gln70His | |
| NM_001303465.2:c.264G>C | NP_001290394.1:p.Gln88His | |
| NM_181311.4:c.210G>C | NP_851828.1:p.Gln70His | |
| NM_181312.4:c.210G>C | NP_851829.1:p.Gln70His | |
| NM_181313.4:c.210G>C | NP_851830.1:p.Gln70His | |
| NR_024048.3:n.515G>C |