Linked Data
ClinVar Variation Id:
513240
dbSNP Id:
rs373480378
ExAC:
6:131904991 C / T
gnomAD v2:
6-131904991-C-T
gnomAD v3:
6-131583851-C-T
gnomAD v4:
6-131583851-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.131583851C>T , CM000668.2:g.131583851C>T | GRCh38 |
| NC_000006.11:g.131904991C>T , CM000668.1:g.131904991C>T | GRCh37 |
| NC_000006.10:g.131946684C>T | NCBI36 |
| NG_007086.2:g.15627C>T | |
| NG_031860.1:g.49373G>A | |
| NG_031860.2:g.49373G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368087.8:c.912C>T (ARG1) MANE Select | ENSP00000357066.3:p.Phe304= | |
| ENST00000640973.1:c.654C>T (ARG1) | ENSP00000492623.1:p.Phe218= | |
| ENST00000672233.1:c.858C>T (ARG1) | ENSP00000499826.1:p.Phe286= | |
| ENST00000673234.1:c.*799C>T (ARG1) | ENSP00000499885.1:n.*799C>T | |
| ENST00000673427.1:c.657C>T (ARG1) | ENSP00000500160.1:p.Phe219= | |
| ENST00000354577.8:c.4095+3858G>A (MED23) | ENSP00000346588.4:n.4095+3858G>A | |
| ENST00000356962.2:c.936C>T (ARG1) | ENSP00000349446.2:p.Phe312= | |
| ENST00000368087.7:c.912C>T (ARG1) | ENSP00000357066.3:p.Phe304= | |
| NM_000045.3:c.912C>T (ARG1) | NP_000036.2:p.Phe304= | |
| NM_001244438.1:c.936C>T (ARG1) | NP_001231367.1:p.Phe312= | |
| NM_001270521.1:c.4077+3858G>A (MED23) | NP_001257450.1:n.4077+3858G>A | |
| NM_015979.3:c.4095+3858G>A (MED23) | NP_057063.2:n.4095+3858G>A | |
| XM_011535801.1:c.657C>T (ARG1) | XP_011534103.1:p.Phe219= | |
| XM_011535801.2:c.657C>T (ARG1) | XP_011534103.1:p.Phe219= | |
| NM_000045.4:c.912C>T (ARG1) MANE Select | NP_000036.2:p.Phe304= | |
| NM_001244438.2:c.936C>T (ARG1) | NP_001231367.1:p.Phe312= | |
| NM_001270521.2:c.4077+3858G>A (MED23) | NP_001257450.1:n.4077+3858G>A | |
| NM_001369020.1:c.657C>T (ARG1) | NP_001355949.1:p.Phe219= | |
| NM_015979.4:c.4095+3858G>A (MED23) | NP_057063.2:n.4095+3858G>A | |
| NR_160934.1:n.896C>T (ARG1) |