Linked Data
ClinVar Variation Id:
2391
ClinVar RCV Id:
RCV000002492
dbSNP Id:
rs104893948
PubMed:
PMID:1463019
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.131583392G>C , CM000668.2:g.131583392G>C | GRCh38 |
| NC_000006.11:g.131904532G>C , CM000668.1:g.131904532G>C | GRCh37 |
| NC_000006.10:g.131946225G>C | NCBI36 |
| NG_007086.2:g.15168G>C | |
| NG_031860.1:g.49832C>G | |
| NG_031860.2:g.49832C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000368087.8:c.703G>C (ARG1) MANE Select | ENSP00000357066.3:p.Gly235Arg | |
| ENST00000640973.1:c.604+289G>C (ARG1) | ENSP00000492623.1:n.604+289G>C | |
| ENST00000672233.1:c.649G>C (ARG1) | ENSP00000499826.1:p.Gly217Arg | |
| ENST00000673234.1:c.*590G>C (ARG1) | ENSP00000499885.1:n.*590G>C | |
| ENST00000673427.1:c.448G>C (ARG1) | ENSP00000500160.1:p.Gly150Arg | |
| ENST00000275196.5:n.687G>C (ARG1) | ||
| ENST00000354577.8:c.4095+4317C>G (MED23) | ENSP00000346588.4:n.4095+4317C>G | |
| ENST00000356962.2:c.727G>C (ARG1) | ENSP00000349446.2:p.Gly243Arg | |
| ENST00000368087.7:c.703G>C (ARG1) | ENSP00000357066.3:p.Gly235Arg | |
| NM_000045.3:c.703G>C (ARG1) | NP_000036.2:p.Gly235Arg | |
| NM_001244438.1:c.727G>C (ARG1) | NP_001231367.1:p.Gly243Arg | |
| NM_001270521.1:c.4077+4317C>G (MED23) | NP_001257450.1:n.4077+4317C>G | |
| NM_015979.3:c.4095+4317C>G (MED23) | NP_057063.2:n.4095+4317C>G | |
| XM_011535801.1:c.448G>C (ARG1) | XP_011534103.1:p.Gly150Arg | |
| XM_011535801.2:c.448G>C (ARG1) | XP_011534103.1:p.Gly150Arg | |
| NM_000045.4:c.703G>C (ARG1) MANE Select | NP_000036.2:p.Gly235Arg | |
| NM_001244438.2:c.727G>C (ARG1) | NP_001231367.1:p.Gly243Arg | |
| NM_001270521.2:c.4077+4317C>G (MED23) | NP_001257450.1:n.4077+4317C>G | |
| NM_001369020.1:c.448G>C (ARG1) | NP_001355949.1:p.Gly150Arg | |
| NM_015979.4:c.4095+4317C>G (MED23) | NP_057063.2:n.4095+4317C>G | |
| NR_160934.1:n.687G>C (ARG1) |