Linked Data
ClinVar Variation Id:
318903
dbSNP Id:
rs140511721
ExAC:
16:30749815 C / T
gnomAD v2:
16-30749815-C-T
gnomAD v3:
16-30738494-C-T
gnomAD v4:
16-30738494-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.30738494C>T , CM000678.2:g.30738494C>T | GRCh38 |
| NC_000016.9:g.30749815C>T , CM000678.1:g.30749815C>T | GRCh37 |
| NC_000016.8:g.30657316C>T | NCBI36 |
| NG_032135.1:g.44354C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411466.7:c.8454C>T | ENSP00000405186.3:p.Pro2818= | |
| ENST00000704023.1:c.1758+539C>T | ||
| ENST00000706321.1:c.8454C>T | ENSP00000516346.1:p.Pro2818= | |
| ENST00000262518.9:c.8454C>T MANE Select | ENSP00000262518.4:p.Pro2818= | |
| ENST00000262518.8:c.8454C>T | ENSP00000262518.4:p.Pro2818= | |
| ENST00000380361.7:c.7923C>T | ENSP00000369719.3:p.Pro2641= | |
| ENST00000395059.6:c.7677C>T | ENSP00000378499.3:p.Pro2559= | |
| NM_006662.2:c.8454C>T | NP_006653.2:p.Pro2818= | |
| NM_006662.3:c.8454C>T MANE Select | NP_006653.2:p.Pro2818= |