Linked Data
dbSNP Id:
rs777241666
gnomAD v2:
6-131904859-A-T
gnomAD v3:
6-131583719-A-T
gnomAD v4:
6-131583719-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.131583719A>T , CM000668.2:g.131583719A>T | GRCh38 |
| NC_000006.11:g.131904859A>T , CM000668.1:g.131904859A>T | GRCh37 |
| NC_000006.10:g.131946552A>T | NCBI36 |
| NG_007086.2:g.15495A>T | |
| NG_031860.1:g.49505T>A | |
| NG_031860.2:g.49505T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000368087.8:c.803-23A>T (ARG1) MANE Select | ENSP00000357066.3:n.803-23A>T | |
| ENST00000640973.1:c.605-83A>T (ARG1) | ENSP00000492623.1:n.605-83A>T | |
| ENST00000672233.1:c.749-23A>T (ARG1) | ENSP00000499826.1:n.749-23A>T | |
| ENST00000673234.1:c.*690-23A>T (ARG1) | ENSP00000499885.1:n.*690-23A>T | |
| ENST00000673427.1:c.548-23A>T (ARG1) | ENSP00000500160.1:n.548-23A>T | |
| ENST00000354577.8:c.4095+3990T>A (MED23) | ENSP00000346588.4:n.4095+3990T>A | |
| ENST00000356962.2:c.827-23A>T (ARG1) | ENSP00000349446.2:n.827-23A>T | |
| ENST00000368087.7:c.803-23A>T (ARG1) | ENSP00000357066.3:n.803-23A>T | |
| NM_000045.3:c.803-23A>T (ARG1) | NP_000036.2:n.803-23A>T | |
| NM_001244438.1:c.827-23A>T (ARG1) | NP_001231367.1:n.827-23A>T | |
| NM_001270521.1:c.4077+3990T>A (MED23) | NP_001257450.1:n.4077+3990T>A | |
| NM_015979.3:c.4095+3990T>A (MED23) | NP_057063.2:n.4095+3990T>A | |
| XM_011535801.1:c.548-23A>T (ARG1) | XP_011534103.1:n.548-23A>T | |
| XM_011535801.2:c.548-23A>T (ARG1) | XP_011534103.1:n.548-23A>T | |
| NM_000045.4:c.803-23A>T (ARG1) MANE Select | NP_000036.2:n.803-23A>T | |
| NM_001244438.2:c.827-23A>T (ARG1) | NP_001231367.1:n.827-23A>T | |
| NM_001270521.2:c.4077+3990T>A (MED23) | NP_001257450.1:n.4077+3990T>A | |
| NM_001369020.1:c.548-23A>T (ARG1) | NP_001355949.1:n.548-23A>T | |
| NM_015979.4:c.4095+3990T>A (MED23) | NP_057063.2:n.4095+3990T>A | |
| NR_160934.1:n.787-23A>T (ARG1) |