Linked Data
ClinVar Variation Id:
318441
dbSNP Id:
rs61759916
ExAC:
16:23391744 C / T
gnomAD v2:
16-23391744-C-T
gnomAD v3:
16-23380423-C-T
gnomAD v4:
16-23380423-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23380423C>T , CM000678.2:g.23380423C>T | GRCh38 |
| NC_000016.9:g.23391744C>T , CM000678.1:g.23391744C>T | GRCh37 |
| NC_000016.8:g.23299245C>T | NCBI36 |
| NG_011908.1:g.83154C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343070.7:c.1545C>T MANE Select | ENSP00000345751.2:p.Ile515= | |
| ENST00000307331.9:c.1680C>T | ENSP00000302874.5:p.Ile560= | |
| ENST00000343070.6:c.1545C>T | ENSP00000345751.2:p.Ile515= | |
| ENST00000564275.5:c.*550C>T | ENSP00000457754.1:n.*550C>T | |
| ENST00000568085.5:c.1437C>T | ENSP00000455673.1:p.Ile479= | |
| ENST00000568923.5:c.1464C>T | ENSP00000456309.1:p.Ile488= | |
| NM_000336.2:c.1545C>T | NP_000327.2:p.Ile515= | |
| XM_011545913.1:c.1578C>T | XP_011544215.1:p.Ile526= | |
| XM_011545914.1:c.1563C>T | XP_011544216.1:p.Ile521= | |
| XM_011545913.2:c.1578C>T | XP_011544215.1:p.Ile526= | |
| XM_017023525.1:c.1602C>T | XP_016879014.1:p.Ile534= | |
| XM_017023526.1:c.1494C>T | XP_016879015.1:p.Ile498= | |
| NM_000336.3:c.1545C>T MANE Select | NP_000327.2:p.Ile515= |