Linked Data
dbSNP Id:
rs1171680629
gnomAD v2:
5-101726736-T-C
gnomAD v3:
5-102391032-T-C
gnomAD v4:
5-102391032-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.102391032T>C , CM000667.2:g.102391032T>C | GRCh38 |
| NC_000005.9:g.101726736T>C , CM000667.1:g.101726736T>C | GRCh37 |
| NC_000005.8:g.101754635T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000506729.6:c.1828A>G MANE Select | ENSP00000421339.1:p.Lys610Glu | |
| ENST00000379807.7:c.1828A>G | ENSP00000369135.3:p.Lys610Glu | |
| ENST00000389019.7:c.1642A>G | ENSP00000373671.3:p.Lys548Glu | |
| ENST00000506729.5:c.1828A>G | ENSP00000421339.1:p.Lys610Glu | |
| ENST00000513675.1:c.1069A>G | ENSP00000421990.1:p.Lys357Glu | |
| ENST00000514765.6:n.198A>G | ||
| NM_001289002.1:c.1828A>G | NP_001275931.1:p.Lys610Glu | |
| NM_001289004.1:c.1642A>G | NP_001275933.1:p.Lys548Glu | |
| NM_001308014.1:c.1069A>G | NP_001294943.1:p.Lys357Glu | |
| NM_173488.4:c.1828A>G | NP_775759.3:p.Lys610Glu | |
| XM_005271874.2:c.1828A>G | XP_005271931.1:p.Lys610Glu | |
| XM_011543147.1:c.1723A>G | XP_011541449.1:p.Lys575Glu | |
| XM_011543148.1:c.1591A>G | XP_011541450.1:p.Lys531Glu | |
| XM_011543149.1:c.1255A>G | XP_011541451.1:p.Lys419Glu | |
| XM_011543150.1:c.1099A>G | XP_011541452.1:p.Lys367Glu | |
| XM_011543151.1:c.1069A>G | XP_011541453.1:p.Lys357Glu | |
| XM_011543153.1:c.1006A>G | XP_011541455.1:p.Lys336Glu | |
| XM_005271874.3:c.1828A>G | XP_005271931.1:p.Lys610Glu | |
| XM_011543147.2:c.1723A>G | XP_011541449.1:p.Lys575Glu | |
| XM_011543148.2:c.1591A>G | XP_011541450.1:p.Lys531Glu | |
| XM_011543153.2:c.1006A>G | XP_011541455.1:p.Lys336Glu | |
| NM_001289002.2:c.1828A>G | NP_001275931.1:p.Lys610Glu | |
| NM_001289004.2:c.1642A>G | NP_001275933.1:p.Lys548Glu | |
| NM_001308014.2:c.1069A>G | NP_001294943.1:p.Lys357Glu | |
| NM_173488.5:c.1828A>G MANE Select | NP_775759.3:p.Lys610Glu |