Linked Data
dbSNP Id:
rs746145338
ExAC:
13:28592610 C / G
gnomAD v2:
13-28592610-C-G
gnomAD v4:
13-28018473-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.28018473C>G , CM000675.2:g.28018473C>G | GRCh38 |
| NC_000013.10:g.28592610C>G , CM000675.1:g.28592610C>G | GRCh37 |
| NC_000013.9:g.27490610C>G | NCBI36 |
| NG_007066.1:g.87096G>C , LRG_457:g.87096G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000241453.12:c.2535G>C MANE Select | ENSP00000241453.7:p.Arg845Ser | |
| ENST00000241453.11:c.2535G>C | ENSP00000241453.7:p.Arg845Ser | |
| ENST00000380987.2:c.*447G>C | ENSP00000370374.2:n.*447G>C | |
| NM_004119.2:c.2535G>C , LRG_457t1:c.2535G>C | NP_004110.2:p.Arg845Ser | |
| NR_130706.1:n.2749G>C | ||
| XM_011535015.1:c.2478G>C | XP_011533317.1:p.Arg826Ser | |
| XM_011535016.1:c.2010G>C | XP_011533318.1:p.Arg670Ser | |
| XM_011535017.1:c.2010G>C | XP_011533319.1:p.Arg670Ser | |
| XM_011535018.1:c.2010G>C | XP_011533320.1:p.Arg670Ser | |
| XM_011535015.2:c.2478G>C | XP_011533317.1:p.Arg826Ser | |
| XM_011535017.2:c.2010G>C | XP_011533319.1:p.Arg670Ser | |
| XM_011535018.2:c.2010G>C | XP_011533320.1:p.Arg670Ser | |
| XM_017020486.1:c.2319G>C | XP_016875975.1:p.Arg773Ser | |
| XM_017020487.1:c.2010G>C | XP_016875976.1:p.Arg670Ser | |
| XM_017020488.1:c.1656G>C | XP_016875977.1:p.Arg552Ser | |
| XM_017020489.1:c.1638G>C | XP_016875978.1:p.Arg546Ser | |
| NM_004119.3:c.2535G>C MANE Select | NP_004110.2:p.Arg845Ser | |
| NR_130706.2:n.2733G>C |