Linked Data
ClinVar Variation Id:
523785
dbSNP Id:
rs1555738369
gnomAD v4:
19-13235694-G-A
COSMIC:
COSM230788
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.13235694G>A , CM000681.2:g.13235694G>A | GRCh38 |
| NC_000019.9:g.13346508G>A , CM000681.1:g.13346508G>A | GRCh37 |
| NC_000019.8:g.13207508G>A | NCBI36 |
| NG_011569.1:g.275767C>T , LRG_7:g.275767C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360228.11:c.4987C>T MANE Select | ENSP00000353362.5:p.Arg1663Ter | |
| ENST00000573710.7:c.4993C>T | ENSP00000460092.3:p.Arg1665Ter | |
| ENST00000573891.6:c.406C>T | ||
| ENST00000574822.6:n.211C>T | ||
| ENST00000585802.6:c.148C>T | ENSP00000465598.2:p.Arg50Ter | |
| ENST00000593267.2:n.192C>T | ||
| ENST00000635727.1:c.4990C>T | ENSP00000490001.1:p.Arg1664Ter | |
| ENST00000635742.1:n.976C>T | ||
| ENST00000635895.1:c.4990C>T | ENSP00000490323.1:p.Arg1664Ter | |
| ENST00000636012.1:c.4990C>T | ENSP00000490223.1:p.Arg1664Ter | |
| ENST00000636058.1:c.302C>T | ||
| ENST00000636389.1:c.4990C>T | ENSP00000489992.1:p.Arg1664Ter | |
| ENST00000636473.1:c.148C>T | ENSP00000490173.1:p.Arg50Ter | |
| ENST00000636549.1:c.4996C>T | ENSP00000490578.1:p.Arg1666Ter | |
| ENST00000637276.1:c.4990C>T | ENSP00000489777.1:p.Arg1664Ter | |
| ENST00000637297.1:c.283C>T | ENSP00000489692.1:p.Arg95Ter | |
| ENST00000637432.1:c.5005C>T | ENSP00000490617.1:p.Arg1669Ter | |
| ENST00000637736.1:c.4849C>T | ENSP00000489861.1:p.Arg1617Ter | |
| ENST00000637769.1:c.4990C>T | ENSP00000489778.1:p.Arg1664Ter | |
| ENST00000637777.1:c.247C>T | ||
| ENST00000637809.1:n.380C>T | ||
| ENST00000637819.1:c.391C>T | ENSP00000490686.1:p.Arg131Ter | |
| ENST00000637927.1:c.4993C>T | ENSP00000489715.1:p.Arg1665Ter | |
| ENST00000638009.2:c.4990C>T | ENSP00000489913.1:p.Arg1664Ter | |
| ENST00000638029.1:c.5005C>T | ENSP00000489829.1:p.Arg1669Ter | |
| ENST00000664864.1:c.5191C>T | ENSP00000499449.1:p.Arg1731Ter | |
| ENST00000360228.9:c.4987C>T | ENSP00000353362.5:p.Arg1663Ter | |
| ENST00000573710.6:c.4990C>T | ENSP00000460092.2:p.Arg1664Ter | |
| ENST00000573891.5:c.406C>T | ||
| ENST00000574822.5:n.211C>T | ||
| ENST00000585802.5:c.1045C>T | ENSP00000465598.1:p.Arg349Ter | |
| ENST00000587525.5:c.448C>T | ENSP00000467729.1:p.Arg150Ter | |
| ENST00000593267.1:n.192C>T | ||
| ENST00000614285.4:c.5005C>T | ENSP00000479983.1:p.Arg1669Ter | |
| NM_000068.3:c.5005C>T | NP_000059.3:p.Arg1669Ter | |
| NM_001127221.1:c.4990C>T , LRG_7t1:c.4990C>T | NP_001120693.1:p.Arg1664Ter | |
| NM_001127222.1:c.4987C>T | NP_001120694.1:p.Arg1663Ter | |
| NM_001174080.1:c.4996C>T | NP_001167551.1:p.Arg1666Ter | |
| NM_023035.2:c.5005C>T | NP_075461.2:p.Arg1669Ter | |
| NM_000068.4:c.5005C>T | NP_000059.3:p.Arg1669Ter | |
| NM_001127222.2:c.4987C>T MANE Select | NP_001120694.1:p.Arg1663Ter | |
| NM_001174080.2:c.4996C>T | NP_001167551.1:p.Arg1666Ter | |
| NM_023035.3:c.5005C>T | NP_075461.2:p.Arg1669Ter | |
| NM_001127221.2:c.4990C>T | NP_001120693.1:p.Arg1664Ter |