Linked Data
dbSNP Id:
rs759120052
ExAC:
5:101726716 C / T
gnomAD v2:
5-101726716-C-T
gnomAD v3:
5-102391012-C-T
gnomAD v4:
5-102391012-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.102391012C>T , CM000667.2:g.102391012C>T | GRCh38 |
| NC_000005.9:g.101726716C>T , CM000667.1:g.101726716C>T | GRCh37 |
| NC_000005.8:g.101754615C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000506729.6:c.1848G>A MANE Select | ENSP00000421339.1:p.Leu616= | |
| ENST00000379807.7:c.1848G>A | ENSP00000369135.3:p.Leu616= | |
| ENST00000389019.7:c.1662G>A | ENSP00000373671.3:p.Leu554= | |
| ENST00000506729.5:c.1848G>A | ENSP00000421339.1:p.Leu616= | |
| ENST00000513675.1:c.1089G>A | ENSP00000421990.1:p.Leu363= | |
| ENST00000514765.6:n.218G>A | ||
| NM_001289002.1:c.1848G>A | NP_001275931.1:p.Leu616= | |
| NM_001289004.1:c.1662G>A | NP_001275933.1:p.Leu554= | |
| NM_001308014.1:c.1089G>A | NP_001294943.1:p.Leu363= | |
| NM_173488.4:c.1848G>A | NP_775759.3:p.Leu616= | |
| XM_005271874.2:c.1848G>A | XP_005271931.1:p.Leu616= | |
| XM_011543147.1:c.1743G>A | XP_011541449.1:p.Leu581= | |
| XM_011543148.1:c.1611G>A | XP_011541450.1:p.Leu537= | |
| XM_011543149.1:c.1275G>A | XP_011541451.1:p.Leu425= | |
| XM_011543150.1:c.1119G>A | XP_011541452.1:p.Leu373= | |
| XM_011543151.1:c.1089G>A | XP_011541453.1:p.Leu363= | |
| XM_011543153.1:c.1026G>A | XP_011541455.1:p.Leu342= | |
| XM_005271874.3:c.1848G>A | XP_005271931.1:p.Leu616= | |
| XM_011543147.2:c.1743G>A | XP_011541449.1:p.Leu581= | |
| XM_011543148.2:c.1611G>A | XP_011541450.1:p.Leu537= | |
| XM_011543153.2:c.1026G>A | XP_011541455.1:p.Leu342= | |
| NM_001289002.2:c.1848G>A | NP_001275931.1:p.Leu616= | |
| NM_001289004.2:c.1662G>A | NP_001275933.1:p.Leu554= | |
| NM_001308014.2:c.1089G>A | NP_001294943.1:p.Leu363= | |
| NM_173488.5:c.1848G>A MANE Select | NP_775759.3:p.Leu616= |