Linked Data
ClinVar Variation Id:
2695191
ClinVar RCV Id:
RCV003514730
gnomAD v4:
16-47696455-T-C
MyVariant Identifiers:
chr16:g.47730366T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.47696455T>C , CM000678.2:g.47696455T>C | GRCh38 |
| NC_000016.9:g.47730366T>C , CM000678.1:g.47730366T>C | GRCh37 |
| NC_000016.8:g.46287867T>C | NCBI36 |
| NG_016598.1:g.240157T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696809.1:c.*1544T>C | ENSP00000512887.1:n.*1544T>C | |
| ENST00000699276.1:c.*598T>C | ENSP00000514257.1:n.*598T>C | |
| ENST00000323584.10:c.2970T>C MANE Select | ENSP00000313504.5:p.Ile990= | |
| ENST00000299167.12:c.2970T>C | ENSP00000299167.8:p.Ile990= | |
| ENST00000323584.9:c.2970T>C | ENSP00000313504.5:p.Ile990= | |
| ENST00000566044.5:c.2949T>C | ENSP00000456729.1:p.Ile983= | |
| ENST00000566319.2:n.1786T>C | ||
| NM_000293.2:c.2970T>C | NP_000284.1:p.Ile990= | |
| NM_001031835.2:c.2949T>C | NP_001027005.1:p.Ile983= | |
| XM_005255983.3:c.2970T>C | XP_005256040.1:p.Ile990= | |
| XM_005255984.3:c.2949T>C | XP_005256041.1:p.Ile983= | |
| XM_011523107.1:c.1548T>C | XP_011521409.1:p.Ile516= | |
| NM_001363837.1:c.2970T>C | NP_001350766.1:p.Ile990= | |
| XM_005255983.4:c.2970T>C | XP_005256040.1:p.Ile990= | |
| XM_005255984.4:c.2949T>C | XP_005256041.1:p.Ile983= | |
| XM_017023282.1:c.1857T>C | XP_016878771.1:p.Ile619= | |
| XM_017023283.1:c.1548T>C | XP_016878772.1:p.Ile516= | |
| XM_017023284.1:c.1548T>C | XP_016878773.1:p.Ile516= | |
| XR_001751913.1:n.2894T>C | ||
| NM_000293.3:c.2970T>C MANE Select | NP_000284.1:p.Ile990= | |
| NM_001031835.3:c.2949T>C | NP_001027005.1:p.Ile983= |