Linked Data
ClinVar Variation Id:
790611
ClinVar RCV Id:
RCV000973426
dbSNP Id:
rs78505067
ExAC:
8:104513156 C / A
gnomAD v2:
8-104513156-C-A
gnomAD v3:
8-103500928-C-A
gnomAD v4:
8-103500928-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.103500928C>A , CM000670.2:g.103500928C>A | GRCh38 |
| NC_000008.10:g.104513156C>A , CM000670.1:g.104513156C>A | GRCh37 |
| NC_000008.9:g.104582332C>A | NCBI36 |
| NG_053027.1:g.5903C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696799.1:c.42C>A MANE Select | ENSP00000512879.1:p.Ile14= | |
| ENST00000696800.1:c.42C>A | ENSP00000512880.1:p.Ile14= | |
| ENST00000696801.1:c.42C>A | ENSP00000512881.1:p.Ile14= | |
| ENST00000705941.1:c.42C>A | ENSP00000516178.1:p.Ile14= | |
| ENST00000705942.1:c.42C>A | ENSP00000516179.1:p.Ile14= | |
| ENST00000705943.1:c.42C>A | ENSP00000516180.1:p.Ile14= | |
| ENST00000705944.1:c.42C>A | ENSP00000516181.1:p.Ile14= | |
| ENST00000705945.1:c.42C>A | ENSP00000516182.1:p.Ile14= | |
| ENST00000705946.1:c.42C>A | ENSP00000516183.1:p.Ile14= | |
| ENST00000705947.1:c.42C>A | ENSP00000516184.1:p.Ile14= | |
| ENST00000705948.1:c.42C>A | ENSP00000516185.1:p.Ile14= | |
| ENST00000649416.1:c.-232+868G>T | ENSP00000496817.1:n.-232+868G>T | |
| ENST00000666250.1:c.42C>A | ENSP00000499454.1:p.Ile14= | |
| ENST00000668113.1:c.42C>A | ENSP00000499719.1:p.Ile14= | |
| ENST00000504942.6:c.42C>A | ENSP00000427018.3:p.Ile14= | |
| ENST00000632716.1:c.42C>A | ENSP00000487907.1:p.Ile14= | |
| NM_001100117.2:c.42C>A | NP_001093587.1:p.Ile14= | |
| XM_005251106.2:c.42C>A | XP_005251163.1:p.Ile14= | |
| XM_005251107.2:c.42C>A | XP_005251164.1:p.Ile14= | |
| XM_005251108.2:c.42C>A | XP_005251165.1:p.Ile14= | |
| XM_011517389.1:c.42C>A | XP_011515691.1:p.Ile14= | |
| XM_011517390.1:c.42C>A | XP_011515692.1:p.Ile14= | |
| XM_011517391.1:c.42C>A | XP_011515693.1:p.Ile14= | |
| XM_011517392.1:c.42C>A | XP_011515694.1:p.Ile14= | |
| XM_011517393.1:c.42C>A | XP_011515695.1:p.Ile14= | |
| XM_011517394.1:c.42C>A | XP_011515696.1:p.Ile14= | |
| XM_011517395.1:c.42C>A | XP_011515697.1:p.Ile14= | |
| XM_011517396.1:c.42C>A | XP_011515698.1:p.Ile14= | |
| XM_011517397.1:c.42C>A | XP_011515699.1:p.Ile14= | |
| XM_011517398.1:c.42C>A | XP_011515700.1:p.Ile14= | |
| XM_011517402.1:c.42C>A | XP_011515704.1:p.Ile14= | |
| NM_001348484.1:c.42C>A | NP_001335413.1:p.Ile14= | |
| NM_001348485.1:c.42C>A | NP_001335414.1:p.Ile14= | |
| NM_001348486.1:c.42C>A | NP_001335415.1:p.Ile14= | |
| NM_001348487.1:c.42C>A | NP_001335416.1:p.Ile14= | |
| NM_001348488.1:c.42C>A | NP_001335417.1:p.Ile14= | |
| NM_001348489.1:c.42C>A | NP_001335418.1:p.Ile14= | |
| NM_001348490.1:c.42C>A | NP_001335419.1:p.Ile14= | |
| NM_001348491.1:c.42C>A | NP_001335420.1:p.Ile14= | |
| NM_001348492.1:c.42C>A | NP_001335421.1:p.Ile14= | |
| NM_001348493.1:c.42C>A | NP_001335422.1:p.Ile14= | |
| NM_001348494.1:c.42C>A | NP_001335423.1:p.Ile14= | |
| NM_001348495.1:c.42C>A | NP_001335424.1:p.Ile14= | |
| NM_001348496.1:c.42C>A | NP_001335425.1:p.Ile14= | |
| NM_001348497.1:c.42C>A | NP_001335426.1:p.Ile14= | |
| NR_145698.1:n.115+868G>T | ||
| NR_145699.1:n.289+472G>T | ||
| NR_145700.1:n.289+472G>T | ||
| NR_145701.1:n.289+472G>T | ||
| NR_145702.1:n.289+472G>T | ||
| NR_145710.1:n.181C>A | ||
| XM_005251106.3:c.42C>A | XP_005251163.1:p.Ile14= | |
| XM_005251107.3:c.42C>A | XP_005251164.1:p.Ile14= | |
| XM_011517395.3:c.42C>A | XP_011515697.1:p.Ile14= | |
| XM_011517398.3:c.42C>A | XP_011515700.1:p.Ile14= | |
| XM_017014006.2:c.42C>A | XP_016869495.1:p.Ile14= | |
| XM_017014007.2:c.42C>A | XP_016869496.1:p.Ile14= | |
| XM_017014008.2:c.42C>A | XP_016869497.1:p.Ile14= | |
| XM_017014009.2:c.42C>A | XP_016869498.1:p.Ile14= | |
| XM_017014010.2:c.42C>A | XP_016869499.1:p.Ile14= | |
| XM_017014011.2:c.42C>A | XP_016869500.1:p.Ile14= | |
| XM_017014012.2:c.42C>A | XP_016869501.1:p.Ile14= | |
| XM_017014014.1:c.42C>A | XP_016869503.1:p.Ile14= | |
| XM_017014015.2:c.42C>A | XP_016869504.1:p.Ile14= | |
| XM_017014016.2:c.42C>A | XP_016869505.1:p.Ile14= | |
| XM_017014017.2:c.42C>A | XP_016869506.1:p.Ile14= | |
| XM_017014019.2:c.42C>A | XP_016869508.1:p.Ile14= | |
| XM_017014021.2:c.42C>A | XP_016869510.1:p.Ile14= | |
| XM_017014023.2:c.42C>A | XP_016869512.1:p.Ile14= | |
| XM_017014024.2:c.42C>A | XP_016869513.1:p.Ile14= | |
| XM_017014027.2:c.42C>A | XP_016869516.1:p.Ile14= | |
| XM_017014028.2:c.42C>A | XP_016869517.1:p.Ile14= | |
| XM_017014034.2:c.42C>A | XP_016869523.1:p.Ile14= | |
| XM_024447342.1:c.42C>A | XP_024303110.1:p.Ile14= | |
| XM_024447343.1:c.42C>A | XP_024303111.1:p.Ile14= | |
| XM_024447344.1:c.42C>A | XP_024303112.1:p.Ile14= | |
| XM_024447345.1:c.42C>A | XP_024303113.1:p.Ile14= | |
| XM_024447346.1:c.42C>A | XP_024303114.1:p.Ile14= | |
| XM_024447347.1:c.42C>A | XP_024303115.1:p.Ile14= | |
| NM_001100117.3:c.42C>A | NP_001093587.1:p.Ile14= | |
| NM_001348484.2:c.42C>A | NP_001335413.1:p.Ile14= | |
| NM_001348485.2:c.42C>A | NP_001335414.1:p.Ile14= | |
| NM_001348486.2:c.42C>A | NP_001335415.1:p.Ile14= | |
| NM_001348487.2:c.42C>A | NP_001335416.1:p.Ile14= | |
| NM_001348488.2:c.42C>A | NP_001335417.1:p.Ile14= | |
| NM_001348489.2:c.42C>A | NP_001335418.1:p.Ile14= | |
| NM_001348490.2:c.42C>A | NP_001335419.1:p.Ile14= | |
| NM_001348491.2:c.42C>A | NP_001335420.1:p.Ile14= | |
| NM_001348492.2:c.42C>A | NP_001335421.1:p.Ile14= | |
| NM_001348493.2:c.42C>A | NP_001335422.1:p.Ile14= | |
| NM_001348494.2:c.42C>A | NP_001335423.1:p.Ile14= | |
| NM_001348495.2:c.42C>A | NP_001335424.1:p.Ile14= | |
| NM_001348496.2:c.42C>A | NP_001335425.1:p.Ile14= | |
| NM_001348497.2:c.42C>A | NP_001335426.1:p.Ile14= | |
| NR_145710.2:n.319C>A | ||
| NM_001348484.3:c.42C>A MANE Select | NP_001335413.1:p.Ile14= | |
| NM_001395652.1:c.42C>A | NP_001382581.1:p.Ile14= | |
| NM_001395653.1:c.42C>A | NP_001382582.1:p.Ile14= | |
| NM_001395654.1:c.42C>A | NP_001382583.1:p.Ile14= |