Linked Data
dbSNP Id:
rs748765479
ExAC:
5:147510853 T / G
gnomAD v2:
5-147510853-T-G
gnomAD v4:
5-148131290-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.148131290T>G , CM000667.2:g.148131290T>G | GRCh38 |
| NC_000005.9:g.147510853T>G , CM000667.1:g.147510853T>G | GRCh37 |
| NC_000005.8:g.147491046T>G | NCBI36 |
| NG_009633.1:g.72319T>G , LRG_110:g.72319T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256084.8:c.2996T>G MANE Select | ENSP00000256084.7:p.Leu999Trp | |
| ENST00000256084.7:c.2996T>G | ENSP00000256084.7:p.Leu999Trp | |
| ENST00000359874.7:c.3086T>G | ENSP00000352936.3:p.Leu1029Trp | |
| NM_001127698.1:c.3086T>G | NP_001121170.1:p.Leu1029Trp | |
| NM_006846.3:c.2996T>G , LRG_110t1:c.2996T>G | NP_006837.2:p.Leu999Trp | |
| XM_011537550.1:c.3029T>G | XP_011535852.1:p.Leu1010Trp | |
| XM_011537551.1:c.3002T>G | XP_011535853.1:p.Leu1001Trp | |
| XM_011537551.2:c.3002T>G | XP_011535853.1:p.Leu1001Trp | |
| NM_001127698.2:c.3086T>G | NP_001121170.1:p.Leu1029Trp | |
| NM_006846.4:c.2996T>G MANE Select | NP_006837.2:p.Leu999Trp |