Linked Data
ClinVar Variation Id:
179001
dbSNP Id:
rs727504599
ExAC:
16:21721276 C / T
gnomAD v2:
16-21721276-C-T
gnomAD v3:
16-21709955-C-T
gnomAD v4:
16-21709955-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.21709955C>T , CM000678.2:g.21709955C>T | GRCh38 |
| NC_000016.9:g.21721276C>T , CM000678.1:g.21721276C>T | GRCh37 |
| NC_000016.8:g.21628777C>T | NCBI36 |
| NG_012973.1:g.36442C>T | |
| NG_012973.2:g.50823C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000388958.8:c.1172C>T | ENSP00000373610.3:p.Ser391Leu | |
| ENST00000646100.2:c.1172C>T MANE Select | ENSP00000496564.2:p.Ser391Leu | |
| ENST00000647277.1:c.1048C>T | ENSP00000495594.1:p.Arg350Trp | |
| ENST00000286149.8:c.1214C>T | ENSP00000286149.4:p.Ser405Leu | |
| ENST00000388956.8:c.935C>T | ENSP00000373608.4:p.Ser312Leu | |
| ENST00000388957.3:c.200C>T | ENSP00000373609.3:p.Ser67Leu | |
| ENST00000388958.7:c.1172C>T | ENSP00000373610.3:p.Ser391Leu | |
| ENST00000563871.5:n.392C>T | ||
| NM_001161683.1:c.935C>T | NP_001155155.1:p.Ser312Leu | |
| NM_144672.3:c.1172C>T | NP_653273.3:p.Ser391Leu | |
| NM_170664.2:c.200C>T | NP_733764.1:p.Ser67Leu | |
| XM_011545747.1:c.1172C>T | XP_011544049.1:p.Ser391Leu | |
| XM_011545748.1:c.41C>T | XP_011544050.1:p.Ser14Leu | |
| NM_144672.4:c.1172C>T MANE Select | NP_653273.3:p.Ser391Leu | |
| XM_011545748.2:c.41C>T | XP_011544050.2:p.Ser14Leu | |
| XR_002957775.1:n.267C>T | ||
| NM_001161683.2:c.935C>T | NP_001155155.1:p.Ser312Leu | |
| NM_170664.3:c.200C>T | NP_733764.1:p.Ser67Leu |