Linked Data
ClinVar Variation Id:
2397
dbSNP Id:
rs104893944
ExAC:
6:131897806 C / T
gnomAD v2:
6-131897806-C-T
gnomAD v3:
6-131576666-C-T
gnomAD v4:
6-131576666-C-T
PubMed:
PMID:10502833
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.131576666C>T , CM000668.2:g.131576666C>T | GRCh38 |
| NC_000006.11:g.131897806C>T , CM000668.1:g.131897806C>T | GRCh37 |
| NC_000006.10:g.131939499C>T | NCBI36 |
| NG_007086.2:g.8442C>T | |
| NG_031860.1:g.56558G>A | |
| NG_031860.2:g.56558G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000368087.8:c.61C>T (ARG1) MANE Select | ENSP00000357066.3:p.Arg21Ter | |
| ENST00000640973.1:c.61C>T (ARG1) | ENSP00000492623.1:p.Arg21Ter | |
| ENST00000672052.1:n.308C>T (ARG1) | ||
| ENST00000672233.1:c.77-2445C>T (ARG1) | ENSP00000499826.1:n.77-2445C>T | |
| ENST00000673234.1:c.80C>T (ARG1) | ENSP00000499885.1:p.Thr27Met | |
| ENST00000673427.1:c.61C>T (ARG1) | ENSP00000500160.1:p.Arg21Ter | |
| ENST00000275196.5:n.115-2445C>T (ARG1) | ||
| ENST00000354577.8:c.4096-2371G>A (MED23) | ENSP00000346588.4:n.4096-2371G>A | |
| ENST00000356962.2:c.61C>T (ARG1) | ENSP00000349446.2:p.Arg21Ter | |
| ENST00000368087.7:c.61C>T (ARG1) | ENSP00000357066.3:p.Arg21Ter | |
| ENST00000469293.1:n.147-2445C>T (ARG1) | ||
| ENST00000484820.1:n.33C>T (ARG1) | ||
| ENST00000498260.1:n.102C>T (ARG1) | ||
| NM_000045.3:c.61C>T (ARG1) | NP_000036.2:p.Arg21Ter | |
| NM_001244438.1:c.61C>T (ARG1) | NP_001231367.1:p.Arg21Ter | |
| NM_001270521.1:c.4078-2371G>A (MED23) | NP_001257450.1:n.4078-2371G>A | |
| NM_015979.3:c.4096-2371G>A (MED23) | NP_057063.2:n.4096-2371G>A | |
| XM_011535801.1:c.61C>T (ARG1) | XP_011534103.1:p.Arg21Ter | |
| XM_011535801.2:c.61C>T (ARG1) | XP_011534103.1:p.Arg21Ter | |
| NM_000045.4:c.61C>T (ARG1) MANE Select | NP_000036.2:p.Arg21Ter | |
| NM_001244438.2:c.61C>T (ARG1) | NP_001231367.1:p.Arg21Ter | |
| NM_001270521.2:c.4078-2371G>A (MED23) | NP_001257450.1:n.4078-2371G>A | |
| NM_001369020.1:c.61C>T (ARG1) | NP_001355949.1:p.Arg21Ter | |
| NM_015979.4:c.4096-2371G>A (MED23) | NP_057063.2:n.4096-2371G>A | |
| NR_160934.1:n.115-2445C>T (ARG1) |