Linked Data
dbSNP Id:
rs200616195
ExAC:
5:101726735 T / C
gnomAD v2:
5-101726735-T-C
gnomAD v3:
5-102391031-T-C
gnomAD v4:
5-102391031-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.102391031T>C , CM000667.2:g.102391031T>C | GRCh38 |
| NC_000005.9:g.101726735T>C , CM000667.1:g.101726735T>C | GRCh37 |
| NC_000005.8:g.101754634T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000506729.6:c.1829A>G MANE Select | ENSP00000421339.1:p.Lys610Arg | |
| ENST00000379807.7:c.1829A>G | ENSP00000369135.3:p.Lys610Arg | |
| ENST00000389019.7:c.1643A>G | ENSP00000373671.3:p.Lys548Arg | |
| ENST00000506729.5:c.1829A>G | ENSP00000421339.1:p.Lys610Arg | |
| ENST00000513675.1:c.1070A>G | ENSP00000421990.1:p.Lys357Arg | |
| ENST00000514765.6:n.199A>G | ||
| NM_001289002.1:c.1829A>G | NP_001275931.1:p.Lys610Arg | |
| NM_001289004.1:c.1643A>G | NP_001275933.1:p.Lys548Arg | |
| NM_001308014.1:c.1070A>G | NP_001294943.1:p.Lys357Arg | |
| NM_173488.4:c.1829A>G | NP_775759.3:p.Lys610Arg | |
| XM_005271874.2:c.1829A>G | XP_005271931.1:p.Lys610Arg | |
| XM_011543147.1:c.1724A>G | XP_011541449.1:p.Lys575Arg | |
| XM_011543148.1:c.1592A>G | XP_011541450.1:p.Lys531Arg | |
| XM_011543149.1:c.1256A>G | XP_011541451.1:p.Lys419Arg | |
| XM_011543150.1:c.1100A>G | XP_011541452.1:p.Lys367Arg | |
| XM_011543151.1:c.1070A>G | XP_011541453.1:p.Lys357Arg | |
| XM_011543153.1:c.1007A>G | XP_011541455.1:p.Lys336Arg | |
| XM_005271874.3:c.1829A>G | XP_005271931.1:p.Lys610Arg | |
| XM_011543147.2:c.1724A>G | XP_011541449.1:p.Lys575Arg | |
| XM_011543148.2:c.1592A>G | XP_011541450.1:p.Lys531Arg | |
| XM_011543153.2:c.1007A>G | XP_011541455.1:p.Lys336Arg | |
| NM_001289002.2:c.1829A>G | NP_001275931.1:p.Lys610Arg | |
| NM_001289004.2:c.1643A>G | NP_001275933.1:p.Lys548Arg | |
| NM_001308014.2:c.1070A>G | NP_001294943.1:p.Lys357Arg | |
| NM_173488.5:c.1829A>G MANE Select | NP_775759.3:p.Lys610Arg |