Linked Data
ClinVar Variation Id:
285622
ClinVar RCV Id:
RCV000274726
dbSNP Id:
rs370453487
ExAC:
8:99139843 C / T
gnomAD v2:
8-99139843-C-T
gnomAD v3:
8-98127615-C-T
gnomAD v4:
8-98127615-C-T
COSMIC:
COSM3382352
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.98127615C>T , CM000670.2:g.98127615C>T | GRCh38 |
| NC_000008.10:g.99139843C>T , CM000670.1:g.99139843C>T | GRCh37 |
| NC_000008.9:g.99209019C>T | NCBI36 |
| NG_052869.1:g.15323C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000401707.7:c.163C>T MANE Select | ENSP00000385787.2:p.Arg55Ter | |
| ENST00000349693.3:c.163C>T | ENSP00000339529.3:p.Arg55Ter | |
| ENST00000401707.6:c.163C>T | ENSP00000385787.2:p.Arg55Ter | |
| ENST00000522319.5:c.163C>T | ENSP00000428945.1:p.Arg55Ter | |
| NM_001145860.1:c.163C>T | NP_001139332.1:p.Arg55Ter | |
| NM_001145861.1:c.163C>T | NP_001139333.1:p.Arg55Ter | |
| NM_015029.2:c.163C>T | NP_055844.2:p.Arg55Ter | |
| XM_011516800.1:c.163C>T | XP_011515102.1:p.Arg55Ter | |
| XM_011516801.1:c.163C>T | XP_011515103.1:p.Arg55Ter | |
| XM_011516801.2:c.163C>T | XP_011515103.1:p.Arg55Ter | |
| NM_001145860.2:c.163C>T MANE Select | NP_001139332.1:p.Arg55Ter | |
| NM_001145861.2:c.163C>T | NP_001139333.1:p.Arg55Ter | |
| NM_015029.3:c.163C>T | NP_055844.2:p.Arg55Ter |