Linked Data
ClinVar Variation Id:
13622
ClinVar RCV Id:
RCV000014592
dbSNP Id:
rs121918022
ExAC:
16:47536948 G / C
gnomAD v2:
16-47536948-G-C
gnomAD v3:
16-47503037-G-C
gnomAD v4:
16-47503037-G-C
PubMed:
PMID:9402963
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.47503037G>C , CM000678.2:g.47503037G>C | GRCh38 |
| NC_000016.9:g.47536948G>C , CM000678.1:g.47536948G>C | GRCh37 |
| NC_000016.8:g.46094449G>C | NCBI36 |
| NG_016598.1:g.46739G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696809.1:c.331G>C | ENSP00000512887.1:p.Ala111Pro | |
| ENST00000699276.1:c.331G>C | ENSP00000514257.1:p.Ala111Pro | |
| ENST00000323584.10:c.352G>C MANE Select | ENSP00000313504.5:p.Ala118Pro | |
| ENST00000299167.12:c.352G>C | ENSP00000299167.8:p.Ala118Pro | |
| ENST00000323584.9:c.352G>C | ENSP00000313504.5:p.Ala118Pro | |
| ENST00000563376.5:c.331G>C | ENSP00000457905.1:p.Ala111Pro | |
| ENST00000565424.2:n.96+41611G>C | ||
| ENST00000566037.6:c.331G>C | ENSP00000455664.2:p.Ala111Pro | |
| ENST00000566044.5:c.331G>C | ENSP00000456729.1:p.Ala111Pro | |
| ENST00000567402.5:n.367G>C | ||
| ENST00000570047.2:c.186G>C | ||
| NM_000293.2:c.352G>C | NP_000284.1:p.Ala118Pro | |
| NM_001031835.2:c.331G>C | NP_001027005.1:p.Ala111Pro | |
| XM_005255983.3:c.352G>C | XP_005256040.1:p.Ala118Pro | |
| XM_005255984.3:c.331G>C | XP_005256041.1:p.Ala111Pro | |
| XM_011523106.1:c.352G>C | XP_011521408.1:p.Ala118Pro | |
| NM_001363837.1:c.352G>C | NP_001350766.1:p.Ala118Pro | |
| XM_005255983.4:c.352G>C | XP_005256040.1:p.Ala118Pro | |
| XM_005255984.4:c.331G>C | XP_005256041.1:p.Ala111Pro | |
| XM_017023283.1:c.-1154G>C | XP_016878772.1:n.-1154G>C | |
| XM_017023284.1:c.-1154G>C | XP_016878773.1:n.-1154G>C | |
| XR_001751913.1:n.367G>C | ||
| NM_000293.3:c.352G>C MANE Select | NP_000284.1:p.Ala118Pro | |
| NM_001031835.3:c.331G>C | NP_001027005.1:p.Ala111Pro |