Linked Data
dbSNP Id:
rs771836205
ExAC:
1:180235672 C / T
gnomAD v2:
1-180235672-C-T
gnomAD v4:
1-180266537-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.180266537C>T , CM000663.2:g.180266537C>T | GRCh38 |
| NC_000001.10:g.180235672C>T , CM000663.1:g.180235672C>T | GRCh37 |
| NC_000001.9:g.178502295C>T | NCBI36 |
| NG_008081.1:g.41231C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263726.4:c.394C>T MANE Select | ENSP00000263726.2:p.Leu132Phe | |
| ENST00000263726.3:c.394C>T | ENSP00000263726.2:p.Leu132Phe | |
| ENST00000561113.1:c.331C>T | ||
| NM_033343.3:c.394C>T | NP_203129.1:p.Leu132Phe | |
| XM_011510105.1:c.211C>T | XP_011508407.1:p.Leu71Phe | |
| XM_011510106.1:c.211C>T | XP_011508408.1:p.Leu71Phe | |
| XM_011510107.1:c.169C>T | XP_011508409.1:p.Leu57Phe | |
| XM_011510108.1:c.169C>T | XP_011508410.1:p.Leu57Phe | |
| XM_011510105.2:c.211C>T | XP_011508407.1:p.Leu71Phe | |
| XM_011510106.3:c.211C>T | XP_011508408.1:p.Leu71Phe | |
| XM_011510108.2:c.169C>T | XP_011508410.1:p.Leu57Phe | |
| XM_017002755.1:c.169C>T | XP_016858244.1:p.Leu57Phe | |
| NM_033343.4:c.394C>T MANE Select | NP_203129.1:p.Leu132Phe |