Linked Data
ClinVar Variation Id:
2390
dbSNP Id:
rs104893947
ExAC:
6:131902418 G / A
gnomAD v2:
6-131902418-G-A
gnomAD v3:
6-131581278-G-A
gnomAD v4:
6-131581278-G-A
PubMed:
PMID:1463019
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.131581278G>A , CM000668.2:g.131581278G>A | GRCh38 |
| NC_000006.11:g.131902418G>A , CM000668.1:g.131902418G>A | GRCh37 |
| NC_000006.10:g.131944111G>A | NCBI36 |
| NG_007086.2:g.13054G>A | |
| NG_031860.1:g.51946C>T | |
| NG_031860.2:g.51946C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368087.8:c.365G>A (ARG1) MANE Select | ENSP00000357066.3:p.Trp122Ter | |
| ENST00000640973.1:c.365G>A (ARG1) | ENSP00000492623.1:p.Trp122Ter | |
| ENST00000672233.1:c.311G>A (ARG1) | ENSP00000499826.1:p.Trp104Ter | |
| ENST00000673234.1:c.*252G>A (ARG1) | ENSP00000499885.1:n.*252G>A | |
| ENST00000673427.1:c.306-1782G>A (ARG1) | ENSP00000500160.1:n.306-1782G>A | |
| ENST00000275196.5:n.349G>A (ARG1) | ||
| ENST00000354577.8:c.4095+6431C>T (MED23) | ENSP00000346588.4:n.4095+6431C>T | |
| ENST00000356962.2:c.389G>A (ARG1) | ENSP00000349446.2:p.Trp130Ter | |
| ENST00000368087.7:c.365G>A (ARG1) | ENSP00000357066.3:p.Trp122Ter | |
| NM_000045.3:c.365G>A (ARG1) | NP_000036.2:p.Trp122Ter | |
| NM_001244438.1:c.389G>A (ARG1) | NP_001231367.1:p.Trp130Ter | |
| NM_001270521.1:c.4077+6431C>T (MED23) | NP_001257450.1:n.4077+6431C>T | |
| NM_015979.3:c.4095+6431C>T (MED23) | NP_057063.2:n.4095+6431C>T | |
| XM_011535801.1:c.306-1782G>A (ARG1) | XP_011534103.1:n.306-1782G>A | |
| XM_011535801.2:c.306-1782G>A (ARG1) | XP_011534103.1:n.306-1782G>A | |
| NM_000045.4:c.365G>A (ARG1) MANE Select | NP_000036.2:p.Trp122Ter | |
| NM_001244438.2:c.389G>A (ARG1) | NP_001231367.1:p.Trp130Ter | |
| NM_001270521.2:c.4077+6431C>T (MED23) | NP_001257450.1:n.4077+6431C>T | |
| NM_001369020.1:c.306-1782G>A (ARG1) | NP_001355949.1:n.306-1782G>A | |
| NM_015979.4:c.4095+6431C>T (MED23) | NP_057063.2:n.4095+6431C>T | |
| NR_160934.1:n.349G>A (ARG1) |