Linked Data
dbSNP Id:
rs762257182
ExAC:
8:48730042 T / A
gnomAD v2:
8-48730042-T-A
gnomAD v4:
8-47817481-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.47817481T>A , CM000670.2:g.47817481T>A | GRCh38 |
| NC_000008.10:g.48730042T>A , CM000670.1:g.48730042T>A | GRCh37 |
| NC_000008.9:g.48892595T>A | NCBI36 |
| NG_023435.1:g.147703A>T , LRG_162:g.147703A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697603.1:c.2203A>T | ENSP00000513358.1:p.Met735Leu | |
| ENST00000697607.1:n.1058A>T | ||
| ENST00000314191.7:c.9526A>T MANE Select | ENSP00000313420.3:p.Met3176Leu | |
| ENST00000314191.6:c.9526A>T | ENSP00000313420.3:p.Met3176Leu | |
| ENST00000338368.7:c.9526A>T | ENSP00000345182.4:p.Met3176Leu | |
| NM_001081640.1:c.9526A>T | NP_001075109.1:p.Met3176Leu | |
| NM_006904.6:c.9526A>T , LRG_162t1:c.9526A>T | NP_008835.5:p.Met3176Leu | |
| XM_011517567.1:c.9529A>T | XP_011515869.1:p.Met3177Leu | |
| XM_011517568.1:c.9529A>T | XP_011515870.1:p.Met3177Leu | |
| NM_001081640.2:c.9526A>T | NP_001075109.1:p.Met3176Leu | |
| NM_006904.7:c.9526A>T MANE Select | NP_008835.5:p.Met3176Leu |