Linked Data
ClinVar Variation Id:
37081
dbSNP Id:
rs144372453
ExAC:
2:121748153 T / C
gnomAD v2:
2-121748153-T-C
gnomAD v3:
2-120990577-T-C
gnomAD v4:
2-120990577-T-C
PubMed:
PMID:21204792
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.120990577T>C , CM000664.2:g.120990577T>C | GRCh38 |
| NC_000002.11:g.121748153T>C , CM000664.1:g.121748153T>C | GRCh37 |
| NC_000002.10:g.121464623T>C | NCBI36 |
| NG_009030.1:g.198287T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000361492.9:c.4612T>C MANE Select | ENSP00000354586.5:p.Ser1538Pro | |
| ENST00000452319.6:c.4663T>C | ENSP00000390436.1:p.Ser1555Pro | |
| ENST00000341310.10:c.*3711T>C | ENSP00000344473.6:n.*3711T>C | |
| ENST00000361492.8:c.4663T>C | ENSP00000354586.4:p.Ser1555Pro | |
| ENST00000438299.5:c.*2544-13T>C | ENSP00000400593.1:n.*2544-13T>C | |
| ENST00000445186.5:c.*3762T>C | ENSP00000397488.1:n.*3762T>C | |
| ENST00000452319.5:c.4663T>C | ENSP00000390436.1:p.Ser1555Pro | |
| ENST00000452692.5:c.*2493-13T>C | ENSP00000403715.1:n.*2493-13T>C | |
| NM_005270.4:c.4663T>C | NP_005261.2:p.Ser1555Pro | |
| XM_006712422.1:c.4612T>C | XP_006712485.1:p.Ser1538Pro | |
| XM_011510969.1:c.4645T>C | XP_011509271.1:p.Ser1549Pro | |
| XM_011510970.1:c.4522T>C | XP_011509272.1:p.Ser1508Pro | |
| XM_011510971.1:c.4468T>C | XP_011509273.1:p.Ser1490Pro | |
| XM_011510972.1:c.4468T>C | XP_011509274.1:p.Ser1490Pro | |
| XM_011510973.1:c.4288T>C | XP_011509275.1:p.Ser1430Pro | |
| XM_011510974.1:c.4237T>C | XP_011509276.1:p.Ser1413Pro | |
| XM_006712422.3:c.4612T>C | XP_006712485.1:p.Ser1538Pro | |
| XM_011510969.2:c.4915T>C | XP_011509271.2:p.Ser1639Pro | |
| XM_011510970.2:c.4522T>C | XP_011509272.1:p.Ser1508Pro | |
| XM_011510971.2:c.4468T>C | XP_011509273.1:p.Ser1490Pro | |
| XM_011510972.2:c.4564T>C | XP_011509274.2:p.Ser1522Pro | |
| XM_011510973.2:c.4288T>C | XP_011509275.1:p.Ser1430Pro | |
| XM_011510974.2:c.4237T>C | XP_011509276.1:p.Ser1413Pro | |
| XM_017003818.1:c.4864T>C | XP_016859307.1:p.Ser1622Pro | |
| XM_024452794.1:c.4663T>C | XP_024308562.1:p.Ser1555Pro | |
| XM_024452795.1:c.4663T>C | XP_024308563.1:p.Ser1555Pro | |
| NM_001371271.1:c.4663T>C | NP_001358200.1:p.Ser1555Pro | |
| NM_001374353.1:c.4612T>C MANE Select | NP_001361282.1:p.Ser1538Pro | |
| NM_001374354.1:c.4237T>C | NP_001361283.1:p.Ser1413Pro | |
| NM_005270.5:c.4663T>C | NP_005261.2:p.Ser1555Pro |