Linked Data
dbSNP Id:
rs781667255
ExAC:
20:45354357 A / T
gnomAD v2:
20-45354357-A-T
gnomAD v4:
20-46725718-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46725718A>T , CM000682.2:g.46725718A>T | GRCh38 |
| NC_000020.10:g.45354357A>T , CM000682.1:g.45354357A>T | GRCh37 |
| NC_000020.9:g.44787764A>T | NCBI36 |
| NG_016284.1:g.21079A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359271.4:c.682A>T MANE Select | ENSP00000352216.2:p.Met228Leu | |
| ENST00000359271.3:c.682A>T | ENSP00000352216.2:p.Met228Leu | |
| NM_030777.3:c.682A>T | NP_110404.1:p.Met228Leu | |
| XM_011529060.1:c.745A>T | XP_011527362.1:p.Met249Leu | |
| XM_011529061.1:c.691A>T | XP_011527363.1:p.Met231Leu | |
| XM_011529062.1:c.745A>T | XP_011527364.1:p.Met249Leu | |
| XM_011529063.1:c.745A>T | XP_011527365.1:p.Met249Leu | |
| XM_011529064.1:c.745A>T | XP_011527366.1:p.Met249Leu | |
| XM_011529065.1:c.745A>T | XP_011527367.1:p.Met249Leu | |
| XR_936641.1:n.881A>T | ||
| XM_011529060.2:c.745A>T | XP_011527362.1:p.Met249Leu | |
| XM_011529061.2:c.691A>T | XP_011527363.1:p.Met231Leu | |
| XM_011529062.2:c.745A>T | XP_011527364.1:p.Met249Leu | |
| XM_011529063.2:c.745A>T | XP_011527365.1:p.Met249Leu | |
| XM_011529064.2:c.745A>T | XP_011527366.1:p.Met249Leu | |
| XM_011529065.2:c.745A>T | XP_011527367.1:p.Met249Leu | |
| XM_017028087.2:c.682A>T | XP_016883576.1:p.Met228Leu | |
| XR_936641.2:n.868A>T | ||
| NM_030777.4:c.682A>T MANE Select | NP_110404.1:p.Met228Leu |