Linked Data
dbSNP Id:
rs555035867
gnomAD v2:
4-160262843-A-C
gnomAD v3:
4-159341691-A-C
gnomAD v4:
4-159341691-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.159341691A>C , CM000666.2:g.159341691A>C | GRCh38 |
| NC_000004.11:g.160262843A>C , CM000666.1:g.160262843A>C | GRCh37 |
| NC_000004.10:g.160482293A>C | NCBI36 |
| NG_063926.1:g.242623A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000505026.2:c.2179A>C | ENSP00000516108.1:p.Met727Leu | |
| ENST00000691494.1:c.2662A>C MANE Select | ENSP00000510694.1:p.Met888Leu | |
| ENST00000644474.1:c.2644A>C | ENSP00000495906.1:p.Met882Leu | |
| ENST00000644902.1:c.2308A>C | ENSP00000495298.1:p.Met770Leu | |
| ENST00000264431.8:c.2179A>C | ENSP00000264431.4:p.Met727Leu | |
| NM_014247.2:c.2179A>C | NP_055062.1:p.Met727Leu | |
| XM_005263358.2:c.2662A>C | XP_005263415.1:p.Met888Leu | |
| XM_005263359.2:c.2662A>C | XP_005263416.1:p.Met888Leu | |
| XM_005263360.2:c.2662A>C | XP_005263417.1:p.Met888Leu | |
| XM_005263361.2:c.2644A>C | XP_005263418.1:p.Met882Leu | |
| XM_006714420.2:c.2644A>C | XP_006714483.1:p.Met882Leu | |
| XM_006714421.2:c.2662A>C | XP_006714484.1:p.Met888Leu | |
| XM_006714422.2:c.2314A>C | XP_006714485.1:p.Met772Leu | |
| XM_011532425.1:c.2326A>C | XP_011530727.1:p.Met776Leu | |
| XM_011532426.1:c.2314A>C | XP_011530728.1:p.Met772Leu | |
| XM_011532427.1:c.2179A>C | XP_011530729.1:p.Met727Leu | |
| NM_001351724.1:c.2662A>C | NP_001338653.1:p.Met888Leu | |
| NM_001351725.1:c.2314A>C | NP_001338654.1:p.Met772Leu | |
| NM_001351726.1:c.2314A>C | NP_001338655.1:p.Met772Leu | |
| NM_001351727.1:c.2179A>C | NP_001338656.1:p.Met727Leu | |
| NM_001351728.1:c.2179A>C | NP_001338657.1:p.Met727Leu | |
| XM_005263358.3:c.2662A>C | XP_005263415.1:p.Met888Leu | |
| XM_005263359.4:c.2662A>C | XP_005263416.1:p.Met888Leu | |
| XM_005263360.3:c.2662A>C | XP_005263417.1:p.Met888Leu | |
| XM_005263361.3:c.2644A>C | XP_005263418.1:p.Met882Leu | |
| XM_006714420.3:c.2644A>C | XP_006714483.1:p.Met882Leu | |
| XM_006714422.4:c.2314A>C | XP_006714485.1:p.Met772Leu | |
| XM_011532425.2:c.2326A>C | XP_011530727.1:p.Met776Leu | |
| XM_011532426.2:c.2314A>C | XP_011530728.1:p.Met772Leu | |
| XM_017008856.2:c.2662A>C | XP_016864345.1:p.Met888Leu | |
| XM_024454286.1:c.2296A>C | XP_024310054.1:p.Met766Leu | |
| XM_024454287.1:c.2296A>C | XP_024310055.1:p.Met766Leu | |
| NM_001351724.2:c.2662A>C | NP_001338653.1:p.Met888Leu | |
| NM_001351727.2:c.2179A>C | NP_001338656.1:p.Met727Leu | |
| NM_001351728.2:c.2179A>C | NP_001338657.1:p.Met727Leu | |
| NM_014247.3:c.2179A>C | NP_055062.1:p.Met727Leu | |
| NM_001351724.4:c.2662A>C | NP_001338653.1:p.Met888Leu | |
| NM_001351725.2:c.2314A>C | NP_001338654.1:p.Met772Leu | |
| NM_001351726.3:c.2314A>C | NP_001338655.1:p.Met772Leu | |
| NM_001351727.4:c.2179A>C | NP_001338656.1:p.Met727Leu | |
| NM_001351728.4:c.2179A>C | NP_001338657.1:p.Met727Leu | |
| NM_001394067.1:c.2662A>C | NP_001380996.1:p.Met888Leu | |
| NM_014247.5:c.2179A>C | NP_055062.1:p.Met727Leu | |
| NM_001351724.5:c.2662A>C | NP_001338653.1:p.Met888Leu | |
| NM_001394067.2:c.2662A>C MANE Select | NP_001380996.1:p.Met888Leu |