Linked Data
ClinVar Variation Id:
188160
ClinVar RCV Id:
RCV000213945
RCV000417652
RCV000759120
RCV001083940
RCV000986642
RCV001358277
RCV003491920
dbSNP Id:
rs372619120
ExAC:
2:47630397 T / C
gnomAD v2:
2-47630397-T-C
gnomAD v3:
2-47403258-T-C
gnomAD v4:
2-47403258-T-C
PubMed:
PMID:25420488
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47403258T>C , CM000664.2:g.47403258T>C | GRCh38 |
| NC_000002.11:g.47630397T>C , CM000664.1:g.47630397T>C | GRCh37 |
| NC_000002.10:g.47483901T>C | NCBI36 |
| NG_007110.2:g.5135T>C , LRG_218:g.5135T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644900.2:c.67T>C | ENSP00000495641.2:p.Phe23Leu | |
| ENST00000233146.7:c.67T>C MANE Select | ENSP00000233146.2:p.Phe23Leu | |
| ENST00000543555.6:c.-31+83T>C | ENSP00000442697.1:n.-31+83T>C | |
| ENST00000644092.1:c.67T>C | ENSP00000496351.1:p.Phe23Leu | |
| ENST00000645339.1:c.67T>C | ENSP00000496441.1:p.Phe23Leu | |
| ENST00000645506.1:c.67T>C | ENSP00000495455.1:p.Phe23Leu | |
| ENST00000646415.1:c.67T>C | ENSP00000495543.1:p.Phe23Leu | |
| ENST00000233146.6:c.67T>C | ENSP00000233146.2:p.Phe23Leu | |
| ENST00000406134.5:c.67T>C | ENSP00000384199.1:p.Phe23Leu | |
| ENST00000454849.5:c.-31+83T>C | ENSP00000411482.1:n.-31+83T>C | |
| ENST00000543555.5:c.-31+83T>C | ENSP00000442697.1:n.-31+83T>C | |
| ENST00000610696.4:c.67T>C | ENSP00000483159.1:p.Phe23Leu | |
| ENST00000613514.4:c.67T>C | ENSP00000484137.1:p.Phe23Leu | |
| ENST00000617333.3:c.67T>C | ENSP00000482468.1:p.Phe23Leu | |
| ENST00000617938.4:c.67T>C | ENSP00000481158.1:p.Phe23Leu | |
| ENST00000621359.2:c.67T>C | ENSP00000481416.1:p.Phe23Leu | |
| NM_000251.2:c.67T>C , LRG_218t1:c.67T>C | NP_000242.1:p.Phe23Leu | |
| NM_001258281.1:c.-31+83T>C | NP_001245210.1:n.-31+83T>C | |
| XM_005264332.2:c.67T>C | XP_005264389.2:p.Phe23Leu | |
| XM_011532867.1:c.67T>C | XP_011531169.1:p.Phe23Leu | |
| XR_939685.1:n.139T>C | ||
| XM_005264332.4:c.67T>C | XP_005264389.2:p.Phe23Leu | |
| XM_011532867.2:c.67T>C | XP_011531169.1:p.Phe23Leu | |
| XR_001738747.2:n.129T>C | ||
| XR_939685.2:n.129T>C | ||
| NM_000251.3:c.67T>C MANE Select | NP_000242.1:p.Phe23Leu |