Linked Data
ClinVar Variation Id:
2442524
ClinVar RCV Id:
RCV003149296
gnomAD v4:
11-77211321-C-A
COSMIC:
COSM6422512
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.77211321C>A , CM000673.2:g.77211321C>A | GRCh38 |
| NC_000011.9:g.76922366C>A , CM000673.1:g.76922366C>A | GRCh37 |
| NC_000011.8:g.76600014C>A | NCBI36 |
| NG_009086.1:g.88057C>A | |
| NG_009086.2:g.88076C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409709.9:c.6221C>A MANE Select | ENSP00000386331.3:p.Pro2074His | |
| ENST00000670577.1:c.4022C>A | ||
| ENST00000409619.6:c.6074C>A | ENSP00000386635.2:p.Pro2025His | |
| ENST00000409709.7:c.6221C>A | ENSP00000386331.3:p.Pro2074His | |
| ENST00000458169.2:c.3647C>A | ENSP00000417017.2:p.Pro1216His | |
| ENST00000458637.6:c.6107C>A | ENSP00000392185.2:p.Pro2036His | |
| ENST00000481328.7:n.3757C>A | ||
| ENST00000526863.2:n.25+410C>A | ||
| ENST00000605744.1:n.1688C>A | ||
| NM_000260.3:c.6221C>A | NP_000251.3:p.Pro2074His | |
| NM_001127180.1:c.6107C>A | NP_001120652.1:p.Pro2036His | |
| XM_005274012.2:c.6104C>A | XP_005274069.1:p.Pro2035His | |
| XM_006718558.2:c.6212C>A | XP_006718621.1:p.Pro2071His | |
| XM_006718559.2:c.6107C>A | XP_006718622.1:p.Pro2036His | |
| XM_006718560.2:c.6104C>A | XP_006718623.1:p.Pro2035His | |
| XM_006718561.2:c.6107C>A | XP_006718624.1:p.Pro2036His | |
| XM_011545044.1:c.6221C>A | XP_011543346.1:p.Pro2074His | |
| XM_011545045.1:c.6215C>A | XP_011543347.1:p.Pro2072His | |
| XM_011545046.1:c.6188C>A | XP_011543348.1:p.Pro2063His | |
| XM_011545047.1:c.6125C>A | XP_011543349.1:p.Pro2042His | |
| XM_011545048.1:c.5996C>A | XP_011543350.1:p.Pro1999His | |
| XM_011545049.1:c.5984C>A | XP_011543351.1:p.Pro1995His | |
| XM_011545050.1:c.5957C>A | XP_011543352.1:p.Pro1986His | |
| XM_011545051.1:c.6221C>A | XP_011543353.1:p.Pro2074His | |
| XR_949938.1:n.6541C>A | ||
| XR_949941.1:n.6515C>A | ||
| XM_011545044.2:c.6221C>A | XP_011543346.1:p.Pro2074His | |
| XM_011545046.2:c.6311C>A | XP_011543348.2:p.Pro2104His | |
| XM_011545050.2:c.5957C>A | XP_011543352.1:p.Pro1986His | |
| XM_017017778.1:c.6305C>A | XP_016873267.1:p.Pro2102His | |
| XM_017017779.1:c.6302C>A | XP_016873268.1:p.Pro2101His | |
| XM_017017780.1:c.6311C>A | XP_016873269.1:p.Pro2104His | |
| XM_017017781.1:c.6215C>A | XP_016873270.1:p.Pro2072His | |
| XM_017017782.1:c.6197C>A | XP_016873271.1:p.Pro2066His | |
| XM_017017783.1:c.6194C>A | XP_016873272.1:p.Pro2065His | |
| XM_017017784.1:c.6194C>A | XP_016873273.1:p.Pro2065His | |
| XM_017017785.1:c.6074C>A | XP_016873274.1:p.Pro2025His | |
| XM_017017786.1:c.6311C>A | XP_016873275.1:p.Pro2104His | |
| XM_017017788.1:c.6197C>A | XP_016873277.1:p.Pro2066His | |
| XR_001747885.1:n.6300C>A | ||
| XR_001747887.1:n.6286C>A | ||
| NM_000260.4:c.6221C>A MANE Select | NP_000251.3:p.Pro2074His | |
| NM_001127180.2:c.6107C>A | NP_001120652.1:p.Pro2036His | |
| NM_001369365.1:c.6074C>A | NP_001356294.1:p.Pro2025His |