Linked Data
ClinVar Variation Id:
127095
ClinVar RCV Id:
RCV000114953
dbSNP Id:
rs587777321
ExAC:
4:156632362 C / T
gnomAD v2:
4-156632362-C-T
gnomAD v4:
4-155711210-C-T
PubMed:
PMID:24581742
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.155711210C>T , CM000666.2:g.155711210C>T | GRCh38 |
| NC_000004.11:g.156632362C>T , CM000666.1:g.156632362C>T | GRCh37 |
| NC_000004.10:g.156851812C>T | NCBI36 |
| NG_034128.1:g.49501C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000506455.6:c.1045C>T MANE Select | ENSP00000424361.1:p.Arg349Ter | |
| ENST00000296518.11:c.1045C>T | ENSP00000296518.7:p.Arg349Ter | |
| ENST00000393832.7:c.271C>T | ENSP00000377418.3:p.Arg91Ter | |
| ENST00000443668.6:c.*488C>T | ENSP00000409903.2:n.*488C>T | |
| ENST00000455639.6:c.1045C>T | ENSP00000412201.2:p.Arg349Ter | |
| ENST00000506455.5:c.1045C>T | ENSP00000424361.1:p.Arg349Ter | |
| ENST00000509901.5:c.194-5949C>T | ENSP00000424863.1:n.194-5949C>T | |
| ENST00000511108.5:c.1045C>T | ENSP00000421493.1:p.Arg349Ter | |
| ENST00000511507.5:c.1045C>T | ENSP00000426968.1:p.Arg349Ter | |
| ENST00000512983.5:n.1369C>T | ||
| ENST00000513574.1:c.1045C>T | ENSP00000426040.1:p.Arg349Ter | |
| ENST00000515201.5:c.376+2916C>T | ENSP00000422141.1:n.376+2916C>T | |
| ENST00000621234.4:c.376+2916C>T | ENSP00000479710.1:n.376+2916C>T | |
| NM_000856.5:c.1045C>T | NP_000847.2:p.Arg349Ter | |
| NM_001130682.2:c.1045C>T | NP_001124154.1:p.Arg349Ter | |
| NM_001130683.3:c.1045C>T | NP_001124155.1:p.Arg349Ter | |
| NM_001130684.2:c.1045C>T | NP_001124156.1:p.Arg349Ter | |
| NM_001130685.2:c.340C>T | NP_001124157.1:p.Arg114Ter | |
| NM_001130687.2:c.1045C>T | NP_001124159.1:p.Arg349Ter | |
| NM_001256449.1:c.1045C>T | NP_001243378.1:p.Arg349Ter | |
| XM_005262955.1:c.1045C>T | XP_005263012.1:p.Arg349Ter | |
| XM_005262956.1:c.340C>T | XP_005263013.1:p.Arg114Ter | |
| XM_005262957.1:c.340C>T | XP_005263014.1:p.Arg114Ter | |
| XM_006714196.1:c.1045C>T | XP_006714259.1:p.Arg349Ter | |
| XM_006714197.1:c.1045C>T | XP_006714260.1:p.Arg349Ter | |
| XM_006714198.1:c.340C>T | XP_006714261.1:p.Arg114Ter | |
| XM_011531899.1:c.1045C>T | XP_011530201.1:p.Arg349Ter | |
| XM_011531900.1:c.340C>T | XP_011530202.1:p.Arg114Ter | |
| XM_005262955.3:c.1045C>T | XP_005263012.1:p.Arg349Ter | |
| XM_005262956.3:c.340C>T | XP_005263013.1:p.Arg114Ter | |
| XM_005262957.3:c.340C>T | XP_005263014.1:p.Arg114Ter | |
| XM_006714196.2:c.1045C>T | XP_006714259.1:p.Arg349Ter | |
| XM_006714197.2:c.1045C>T | XP_006714260.1:p.Arg349Ter | |
| XM_011531900.2:c.340C>T | XP_011530202.1:p.Arg114Ter | |
| NM_000856.6:c.1045C>T | NP_000847.2:p.Arg349Ter | |
| NM_001130682.3:c.1045C>T MANE Select | NP_001124154.1:p.Arg349Ter | |
| NM_001130683.4:c.1045C>T | NP_001124155.1:p.Arg349Ter | |
| NM_001130684.3:c.1045C>T | NP_001124156.1:p.Arg349Ter | |
| NM_001130685.3:c.340C>T | NP_001124157.1:p.Arg114Ter | |
| NM_001256449.2:c.1045C>T | NP_001243378.1:p.Arg349Ter | |
| NM_001130687.3:c.1045C>T | NP_001124159.1:p.Arg349Ter | |
| NM_001379666.1:c.1045C>T | NP_001366595.1:p.Arg349Ter | |
| NM_001379667.1:c.1045C>T | NP_001366596.1:p.Arg349Ter | |
| NM_001379668.1:c.1045C>T | NP_001366597.1:p.Arg349Ter | |
| NM_001379669.1:c.1045C>T | NP_001366598.1:p.Arg349Ter | |
| NM_001379670.1:c.1045C>T | NP_001366599.1:p.Arg349Ter | |
| NM_001379671.1:c.1045C>T | NP_001366600.1:p.Arg349Ter | |
| NM_001379672.1:c.1045C>T | NP_001366601.1:p.Arg349Ter | |
| NM_001379673.1:c.1045C>T | NP_001366602.1:p.Arg349Ter | |
| NM_001379674.1:c.1045C>T | NP_001366603.1:p.Arg349Ter | |
| NM_001379675.1:c.1045C>T | NP_001366604.1:p.Arg349Ter | |
| NM_001379676.1:c.538C>T | NP_001366605.1:p.Arg180Ter |