Linked Data
dbSNP Id:
rs567931666
ExAC:
2:31756488 A / G
gnomAD v2:
2-31756488-A-G
gnomAD v3:
2-31531418-A-G
gnomAD v4:
2-31531418-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.31531418A>G , CM000664.2:g.31531418A>G | GRCh38 |
| NC_000002.11:g.31756488A>G , CM000664.1:g.31756488A>G | GRCh37 |
| NC_000002.10:g.31609992A>G | NCBI36 |
| NG_008365.1:g.54554T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622030.2:c.500T>C MANE Select | ENSP00000477587.1:p.Leu167Ser | |
| ENST00000622030.1:c.500T>C | ENSP00000477587.1:p.Leu167Ser | |
| NM_000348.3:c.500T>C | NP_000339.2:p.Leu167Ser | |
| XM_011533069.1:c.278T>C | XP_011531371.1:p.Leu93Ser | |
| XM_011533070.1:c.245T>C | XP_011531372.1:p.Leu82Ser | |
| XM_011533071.1:c.245T>C | XP_011531373.1:p.Leu82Ser | |
| XM_011533072.1:c.245T>C | XP_011531374.1:p.Leu82Ser | |
| XM_011533069.2:c.278T>C | XP_011531371.1:p.Leu93Ser | |
| XM_011533072.2:c.245T>C | XP_011531374.1:p.Leu82Ser | |
| NM_000348.4:c.500T>C MANE Select | NP_000339.2:p.Leu167Ser |