Linked Data
dbSNP Id:
rs1184888138
gnomAD v2:
13-24436464-T-C
gnomAD v3:
13-23862325-T-C
gnomAD v4:
13-23862325-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23862325T>C , CM000675.2:g.23862325T>C | GRCh38 |
| NC_000013.10:g.24436464T>C , CM000675.1:g.24436464T>C | GRCh37 |
| NC_000013.9:g.23334464T>C | NCBI36 |
| NG_052977.1:g.32124A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382172.4:c.1030A>G MANE Select | ENSP00000371607.3:p.Met344Val | |
| ENST00000382172.3:c.1030A>G | ENSP00000371607.3:p.Met344Val | |
| ENST00000494139.1:n.427A>G | ||
| NM_005932.3:c.1030A>G | NP_005923.2:p.Met344Val | |
| XM_011535097.1:c.844A>G | XP_011533399.1:p.Met282Val | |
| XM_011535098.1:c.1030A>G | XP_011533400.1:p.Met344Val | |
| XM_011535097.2:c.844A>G | XP_011533399.1:p.Met282Val | |
| XM_011535098.3:c.1030A>G | XP_011533400.1:p.Met344Val | |
| NM_005932.4:c.1030A>G MANE Select | NP_005923.3:p.Met344Val |