Linked Data
ClinVar Variation Id:
197283
dbSNP Id:
rs183497403
ExAC:
16:30715392 C / T
gnomAD v2:
16-30715392-C-T
gnomAD v3:
16-30704071-C-T
gnomAD v4:
16-30704071-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.30704071C>T , CM000678.2:g.30704071C>T | GRCh38 |
| NC_000016.9:g.30715392C>T , CM000678.1:g.30715392C>T | GRCh37 |
| NC_000016.8:g.30622893C>T | NCBI36 |
| NG_032135.1:g.9931C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411466.7:c.62C>T | ENSP00000405186.3:p.Ser21Leu | |
| ENST00000706321.1:c.62C>T | ENSP00000516346.1:p.Ser21Leu | |
| ENST00000262518.9:c.62C>T MANE Select | ENSP00000262518.4:p.Ser21Leu | |
| ENST00000262518.8:c.62C>T | ENSP00000262518.4:p.Ser21Leu | |
| ENST00000380361.7:c.5C>T | ENSP00000369719.3:p.Ser2Leu | |
| ENST00000411466.6:c.62C>T | ENSP00000405186.2:p.Ser21Leu | |
| NM_006662.2:c.62C>T | NP_006653.2:p.Ser21Leu | |
| NM_006662.3:c.62C>T MANE Select | NP_006653.2:p.Ser21Leu |