Linked Data
ClinVar Variation Id:
372598
ClinVar RCV Id:
RCV000413991
dbSNP Id:
rs919487431
gnomAD v4:
4-155730067-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.155730067C>T , CM000666.2:g.155730067C>T | GRCh38 |
| NC_000004.11:g.156651219C>T , CM000666.1:g.156651219C>T | GRCh37 |
| NC_000004.10:g.156870669C>T | NCBI36 |
| NG_034128.1:g.68358C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000506455.6:c.1909C>T MANE Select | ENSP00000424361.1:p.Arg637Ter | |
| ENST00000296518.11:c.1909C>T | ENSP00000296518.7:p.Arg637Ter | |
| ENST00000393832.7:c.1135C>T | ENSP00000377418.3:p.Arg379Ter | |
| ENST00000443668.6:c.*1352C>T | ENSP00000409903.2:n.*1352C>T | |
| ENST00000455639.6:c.1909C>T | ENSP00000412201.2:p.Arg637Ter | |
| ENST00000506455.5:c.1909C>T | ENSP00000424361.1:p.Arg637Ter | |
| ENST00000509901.5:c.*281C>T | ENSP00000424863.1:n.*281C>T | |
| ENST00000511108.5:c.1909C>T | ENSP00000421493.1:p.Arg637Ter | |
| ENST00000513574.1:c.1909C>T | ENSP00000426040.1:p.Arg637Ter | |
| ENST00000515201.5:c.*281C>T | ENSP00000422141.1:n.*281C>T | |
| ENST00000621234.4:c.*281C>T | ENSP00000479710.1:n.*281C>T | |
| NM_000856.5:c.1909C>T | NP_000847.2:p.Arg637Ter | |
| NM_001130682.2:c.1909C>T | NP_001124154.1:p.Arg637Ter | |
| NM_001130683.3:c.1909C>T | NP_001124155.1:p.Arg637Ter | |
| NM_001130684.2:c.1909C>T | NP_001124156.1:p.Arg637Ter | |
| NM_001130685.2:c.1204C>T | NP_001124157.1:p.Arg402Ter | |
| NM_001256449.1:c.1909C>T | NP_001243378.1:p.Arg637Ter | |
| XM_005262955.1:c.1909C>T | XP_005263012.1:p.Arg637Ter | |
| XM_005262956.1:c.1204C>T | XP_005263013.1:p.Arg402Ter | |
| XM_005262957.1:c.1204C>T | XP_005263014.1:p.Arg402Ter | |
| XM_006714196.1:c.1909C>T | XP_006714259.1:p.Arg637Ter | |
| XM_006714197.1:c.1909C>T | XP_006714260.1:p.Arg637Ter | |
| XM_006714198.1:c.1204C>T | XP_006714261.1:p.Arg402Ter | |
| XM_011531899.1:c.1909C>T | XP_011530201.1:p.Arg637Ter | |
| XM_011531900.1:c.1204C>T | XP_011530202.1:p.Arg402Ter | |
| XR_939379.1:n.1262-2032G>A | ||
| XR_939380.1:n.1262-2032G>A | ||
| XR_939381.1:n.1262-2091G>A | ||
| XR_939382.1:n.1085-2032G>A | ||
| XR_939383.1:n.670-2032G>A | ||
| XR_939384.1:n.1262-2032G>A | ||
| XR_939385.1:n.578-2032G>A | ||
| XR_939386.1:n.1262-2032G>A | ||
| XR_939387.1:n.1262-2032G>A | ||
| XR_939388.1:n.1262-2032G>A | ||
| XM_005262955.3:c.1909C>T | XP_005263012.1:p.Arg637Ter | |
| XM_005262956.3:c.1204C>T | XP_005263013.1:p.Arg402Ter | |
| XM_005262957.3:c.1204C>T | XP_005263014.1:p.Arg402Ter | |
| XM_006714196.2:c.1909C>T | XP_006714259.1:p.Arg637Ter | |
| XM_006714197.2:c.1909C>T | XP_006714260.1:p.Arg637Ter | |
| XM_011531900.2:c.1204C>T | XP_011530202.1:p.Arg402Ter | |
| XR_001741896.1:n.2539-2091G>A | ||
| XR_001741897.1:n.2525-2091G>A | ||
| XR_001741898.1:n.1281-2091G>A | ||
| XR_001741899.1:n.689-2091G>A | ||
| NM_000856.6:c.1909C>T | NP_000847.2:p.Arg637Ter | |
| NM_001130682.3:c.1909C>T MANE Select | NP_001124154.1:p.Arg637Ter | |
| NM_001130683.4:c.1909C>T | NP_001124155.1:p.Arg637Ter | |
| NM_001130684.3:c.1909C>T | NP_001124156.1:p.Arg637Ter | |
| NM_001130685.3:c.1204C>T | NP_001124157.1:p.Arg402Ter | |
| NM_001256449.2:c.1909C>T | NP_001243378.1:p.Arg637Ter | |
| NM_001379666.1:c.1909C>T | NP_001366595.1:p.Arg637Ter | |
| NM_001379667.1:c.1909C>T | NP_001366596.1:p.Arg637Ter | |
| NM_001379668.1:c.1909C>T | NP_001366597.1:p.Arg637Ter | |
| NM_001379669.1:c.1909C>T | NP_001366598.1:p.Arg637Ter | |
| NM_001379670.1:c.1909C>T | NP_001366599.1:p.Arg637Ter | |
| NM_001379671.1:c.1909C>T | NP_001366600.1:p.Arg637Ter | |
| NM_001379672.1:c.1909C>T | NP_001366601.1:p.Arg637Ter | |
| NM_001379673.1:c.1909C>T | NP_001366602.1:p.Arg637Ter | |
| NM_001379674.1:c.1909C>T | NP_001366603.1:p.Arg637Ter | |
| NM_001379675.1:c.1754C>T | NP_001366604.1:p.Ser585Leu | |
| NM_001379676.1:c.1402C>T | NP_001366605.1:p.Arg468Ter |