Linked Data
dbSNP Id:
rs2137676197
gnomAD v4:
13-28034206-C-T
MyVariant Identifiers:
chr13:g.28608343C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.28034206C>T , CM000675.2:g.28034206C>T | GRCh38 |
| NC_000013.10:g.28608343C>T , CM000675.1:g.28608343C>T | GRCh37 |
| NC_000013.9:g.27506343C>T | NCBI36 |
| NG_007066.1:g.71363G>A , LRG_457:g.71363G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000241453.12:c.1713G>A MANE Select | ENSP00000241453.7:p.Arg571= | |
| ENST00000241453.11:c.1713G>A | ENSP00000241453.7:p.Arg571= | |
| ENST00000380987.2:c.1713G>A | ENSP00000370374.2:p.Arg571= | |
| NM_004119.2:c.1713G>A , LRG_457t1:c.1713G>A | NP_004110.2:p.Arg571= | |
| NR_130706.1:n.1795G>A | ||
| XM_011535015.1:c.1656G>A | XP_011533317.1:p.Arg552= | |
| XM_011535016.1:c.1188G>A | XP_011533318.1:p.Arg396= | |
| XM_011535017.1:c.1188G>A | XP_011533319.1:p.Arg396= | |
| XM_011535018.1:c.1188G>A | XP_011533320.1:p.Arg396= | |
| XM_011535015.2:c.1656G>A | XP_011533317.1:p.Arg552= | |
| XM_011535017.2:c.1188G>A | XP_011533319.1:p.Arg396= | |
| XM_011535018.2:c.1188G>A | XP_011533320.1:p.Arg396= | |
| XM_017020486.1:c.1497G>A | XP_016875975.1:p.Arg499= | |
| XM_017020487.1:c.1188G>A | XP_016875976.1:p.Arg396= | |
| XM_017020488.1:c.834G>A | XP_016875977.1:p.Arg278= | |
| XM_017020489.1:c.816G>A | XP_016875978.1:p.Arg272= | |
| NM_004119.3:c.1713G>A MANE Select | NP_004110.2:p.Arg571= | |
| NR_130706.2:n.1779G>A |