Linked Data
dbSNP Id:
rs750114442
ExAC:
5:56177561 G / C
gnomAD v2:
5-56177561-G-C
gnomAD v4:
5-56881734-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.56881734G>C , CM000667.2:g.56881734G>C | GRCh38 |
| NC_000005.9:g.56177561G>C , CM000667.1:g.56177561G>C | GRCh37 |
| NC_000005.8:g.56213318G>C | NCBI36 |
| NG_031884.1:g.71662G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399503.4:c.2534G>C MANE Select | ENSP00000382423.3:p.Ser845Thr | |
| ENST00000399503.3:c.2534G>C | ENSP00000382423.3:p.Ser845Thr | |
| NM_005921.1:c.2534G>C | NP_005912.1:p.Ser845Thr | |
| XM_005248519.3:c.2156G>C | XP_005248576.2:p.Ser719Thr | |
| XM_011543406.1:c.2279G>C | XP_011541708.1:p.Ser760Thr | |
| XM_011543407.1:c.2255G>C | XP_011541709.1:p.Ser752Thr | |
| XM_011543408.1:c.2534G>C | XP_011541710.1:p.Ser845Thr | |
| XM_017009484.1:c.2123G>C | XP_016864973.1:p.Ser708Thr | |
| XM_017009485.1:c.2045G>C | XP_016864974.1:p.Ser682Thr | |
| XR_001742068.2:n.2565G>C | ||
| NM_005921.2:c.2534G>C MANE Select | NP_005912.1:p.Ser845Thr |