Linked Data
dbSNP Id:
rs11568355
ExAC:
2:190428418 T / G
gnomAD v2:
2-190428418-T-G
gnomAD v4:
2-189563692-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189563692T>G , CM000664.2:g.189563692T>G | GRCh38 |
| NC_000002.11:g.190428418T>G , CM000664.1:g.190428418T>G | GRCh37 |
| NC_000002.10:g.190136663T>G | NCBI36 |
| NG_009027.1:g.22120A>C , LRG_837:g.22120A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261024.7:c.1294A>C MANE Select | ENSP00000261024.3:p.Met432Leu | |
| ENST00000261024.6:c.1294A>C | ENSP00000261024.2:p.Met432Leu | |
| NM_014585.5:c.1294A>C , LRG_837t1:c.1294A>C | NP_055400.1:p.Met432Leu | |
| XM_005246505.1:c.1174A>C | XP_005246562.1:p.Met392Leu | |
| XM_005246505.2:c.1174A>C | XP_005246562.1:p.Met392Leu | |
| XM_017003938.2:c.1174A>C | XP_016859427.1:p.Met392Leu | |
| NM_014585.6:c.1294A>C MANE Select | NP_055400.1:p.Met432Leu |