Linked Data
ClinVar Variation Id:
355321
dbSNP Id:
rs202219126
ExAC:
6:131905023 T / C
gnomAD v2:
6-131905023-T-C
gnomAD v3:
6-131583883-T-C
gnomAD v4:
6-131583883-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.131583883T>C , CM000668.2:g.131583883T>C | GRCh38 |
| NC_000006.11:g.131905023T>C , CM000668.1:g.131905023T>C | GRCh37 |
| NC_000006.10:g.131946716T>C | NCBI36 |
| NG_007086.2:g.15659T>C | |
| NG_031860.1:g.49341A>G | |
| NG_031860.2:g.49341A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368087.8:c.944T>C (ARG1) MANE Select | ENSP00000357066.3:p.Ile315Thr | |
| ENST00000640973.1:c.686T>C (ARG1) | ENSP00000492623.1:p.Ile229Thr | |
| ENST00000672233.1:c.890T>C (ARG1) | ENSP00000499826.1:p.Ile297Thr | |
| ENST00000673234.1:c.*831T>C (ARG1) | ENSP00000499885.1:n.*831T>C | |
| ENST00000673427.1:c.689T>C (ARG1) | ENSP00000500160.1:p.Ile230Thr | |
| ENST00000354577.8:c.4095+3826A>G (MED23) | ENSP00000346588.4:n.4095+3826A>G | |
| ENST00000356962.2:c.968T>C (ARG1) | ENSP00000349446.2:p.Ile323Thr | |
| ENST00000368087.7:c.944T>C (ARG1) | ENSP00000357066.3:p.Ile315Thr | |
| NM_000045.3:c.944T>C (ARG1) | NP_000036.2:p.Ile315Thr | |
| NM_001244438.1:c.968T>C (ARG1) | NP_001231367.1:p.Ile323Thr | |
| NM_001270521.1:c.4077+3826A>G (MED23) | NP_001257450.1:n.4077+3826A>G | |
| NM_015979.3:c.4095+3826A>G (MED23) | NP_057063.2:n.4095+3826A>G | |
| XM_011535801.1:c.689T>C (ARG1) | XP_011534103.1:p.Ile230Thr | |
| XM_011535801.2:c.689T>C (ARG1) | XP_011534103.1:p.Ile230Thr | |
| NM_000045.4:c.944T>C (ARG1) MANE Select | NP_000036.2:p.Ile315Thr | |
| NM_001244438.2:c.968T>C (ARG1) | NP_001231367.1:p.Ile323Thr | |
| NM_001270521.2:c.4077+3826A>G (MED23) | NP_001257450.1:n.4077+3826A>G | |
| NM_001369020.1:c.689T>C (ARG1) | NP_001355949.1:p.Ile230Thr | |
| NM_015979.4:c.4095+3826A>G (MED23) | NP_057063.2:n.4095+3826A>G | |
| NR_160934.1:n.928T>C (ARG1) |