Linked Data
ClinVar Variation Id:
134846
ClinVar RCV Id:
RCV000121566
RCV000230947
RCV000409685
RCV000571485
RCV000587188
RCV002477316
RCV003483487
RCV003997350
dbSNP Id:
rs150548839
ExAC:
2:47635548 A / C
gnomAD v2:
2-47635548-A-C
gnomAD v3:
2-47408409-A-C
gnomAD v4:
2-47408409-A-C
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47408409A>C , CM000664.2:g.47408409A>C | GRCh38 |
| NC_000002.11:g.47635548A>C , CM000664.1:g.47635548A>C | GRCh37 |
| NC_000002.10:g.47489052A>C | NCBI36 |
| NG_007110.2:g.10286A>C , LRG_218:g.10286A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644900.2:c.220A>C | ENSP00000495641.2:p.Asn74His | |
| ENST00000233146.7:c.220A>C MANE Select | ENSP00000233146.2:p.Asn74His | |
| ENST00000543555.6:c.22A>C | ENSP00000442697.1:p.Asn8His | |
| ENST00000644092.1:c.220A>C | ENSP00000496351.1:p.Asn74His | |
| ENST00000645339.1:c.220A>C | ENSP00000496441.1:p.Asn74His | |
| ENST00000645506.1:c.220A>C | ENSP00000495455.1:p.Asn74His | |
| ENST00000646415.1:c.220A>C | ENSP00000495543.1:p.Asn74His | |
| ENST00000233146.6:c.220A>C | ENSP00000233146.2:p.Asn74His | |
| ENST00000406134.5:c.220A>C | ENSP00000384199.1:p.Asn74His | |
| ENST00000454849.5:c.22A>C | ENSP00000411482.1:p.Asn8His | |
| ENST00000543555.5:c.22A>C | ENSP00000442697.1:p.Asn8His | |
| ENST00000610696.4:c.220A>C | ENSP00000483159.1:p.Asn74His | |
| ENST00000613514.4:c.220A>C | ENSP00000484137.1:p.Asn74His | |
| ENST00000617333.3:c.220A>C | ENSP00000482468.1:p.Asn74His | |
| ENST00000617938.4:c.220A>C | ENSP00000481158.1:p.Asn74His | |
| ENST00000621359.2:c.220A>C | ENSP00000481416.1:p.Asn74His | |
| NM_000251.2:c.220A>C , LRG_218t1:c.220A>C | NP_000242.1:p.Asn74His | |
| NM_001258281.1:c.22A>C | NP_001245210.1:p.Asn8His | |
| XM_005264332.2:c.220A>C | XP_005264389.2:p.Asn74His | |
| XM_011532867.1:c.220A>C | XP_011531169.1:p.Asn74His | |
| XR_939685.1:n.292A>C | ||
| XM_005264332.4:c.220A>C | XP_005264389.2:p.Asn74His | |
| XM_011532867.2:c.220A>C | XP_011531169.1:p.Asn74His | |
| XR_001738747.2:n.282A>C | ||
| XR_939685.2:n.282A>C | ||
| NM_000251.3:c.220A>C MANE Select | NP_000242.1:p.Asn74His |