Linked Data
dbSNP Id:
rs374368287
ExAC:
21:19653492 T / C
gnomAD v2:
21-19653492-T-C
gnomAD v3:
21-18281175-T-C
gnomAD v4:
21-18281175-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.18281175T>C , CM000683.2:g.18281175T>C | GRCh38 |
| NC_000021.8:g.19653492T>C , CM000683.1:g.19653492T>C | GRCh37 |
| NC_000021.7:g.18575363T>C | NCBI36 |
| NG_012207.1:g.127479A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284885.8:c.2533A>G MANE Select | ENSP00000284885.3:p.Met845Val | |
| ENST00000284885.7:c.2533A>G | ENSP00000284885.3:p.Met845Val | |
| NM_002772.2:c.2533A>G | NP_002763.2:p.Met845Val | |
| XM_011529654.1:c.2668A>G | XP_011527956.1:p.Met890Val | |
| XM_011529655.1:c.2668A>G | XP_011527957.1:p.Met890Val | |
| XM_011529656.1:c.2668A>G | XP_011527958.1:p.Met890Val | |
| XM_011529657.1:c.2623A>G | XP_011527959.1:p.Met875Val | |
| XM_011529658.1:c.2587A>G | XP_011527960.1:p.Met863Val | |
| XM_011529659.1:c.2578A>G | XP_011527961.1:p.Met860Val | |
| XM_011529654.2:c.2668A>G | XP_011527956.1:p.Met890Val | |
| XM_011529656.2:c.2668A>G | XP_011527958.1:p.Met890Val | |
| XM_011529657.2:c.2623A>G | XP_011527959.1:p.Met875Val | |
| XM_011529658.2:c.2587A>G | XP_011527960.1:p.Met863Val | |
| NM_002772.3:c.2533A>G MANE Select | NP_002763.3:p.Met845Val |