Linked Data
ClinVar Variation Id:
536770
ClinVar RCV Id:
RCV000645418
dbSNP Id:
rs146020517
ExAC:
1:6533099 T / G
gnomAD v2:
1-6533099-T-G
gnomAD v3:
1-6473039-T-G
gnomAD v4:
1-6473039-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.6473039T>G , CM000663.2:g.6473039T>G | GRCh38 |
| NC_000001.10:g.6533099T>G , CM000663.1:g.6533099T>G | GRCh37 |
| NC_000001.9:g.6455686T>G | NCBI36 |
| NG_007978.1:g.51971A>C , LRG_262:g.51971A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000340850.10:c.931A>C | ENSP00000344570.5:p.Asn311His | |
| ENST00000377728.8:c.931A>C MANE Select | ENSP00000366957.3:p.Asn311His | |
| ENST00000377740.5:c.931A>C | ENSP00000366969.4:p.Asn311His | |
| ENST00000377748.6:c.1105A>C | ENSP00000366977.2:p.Asn369His | |
| ENST00000400913.6:c.931A>C | ENSP00000383704.1:p.Asn311His | |
| ENST00000400915.8:c.1042A>C | ENSP00000383706.4:p.Asn348His | |
| ENST00000489097.6:n.1407A>C | ||
| ENST00000535355.6:c.1138A>C | ENSP00000441445.1:p.Asn380His | |
| ENST00000537245.6:c.1042A>C | ENSP00000439625.2:p.Asn348His | |
| ENST00000673471.2:c.1228A>C | ENSP00000500749.1:p.Asn410His | |
| ENST00000674790.1:c.*1143A>C | ENSP00000502815.1:n.*1143A>C | |
| ENST00000675123.1:c.931A>C | ENSP00000502132.1:p.Asn311His | |
| ENST00000675548.1:c.*759A>C | ENSP00000502684.1:n.*759A>C | |
| ENST00000675694.1:c.931A>C | ENSP00000501925.1:p.Asn311His | |
| ENST00000340850.9:c.931A>C | ENSP00000344570.5:p.Asn311His | |
| ENST00000377725.5:c.931A>C | ENSP00000366954.1:p.Asn311His | |
| ENST00000377728.7:c.931A>C | ENSP00000366957.3:p.Asn311His | |
| ENST00000377732.5:c.1042A>C | ENSP00000366961.1:p.Asn348His | |
| ENST00000377740.4:c.1162A>C | ENSP00000366969.3:p.Asn388His | |
| ENST00000377748.5:c.1162A>C | ENSP00000366977.1:p.Asn388His | |
| ENST00000400913.5:c.931A>C | ENSP00000383704.1:p.Asn311His | |
| ENST00000400915.7:c.1099A>C | ENSP00000383706.3:p.Asn367His | |
| ENST00000489097.5:n.1407A>C | ||
| ENST00000535355.5:c.1138A>C | ENSP00000441445.1:p.Asn380His | |
| ENST00000537245.5:c.1168A>C | ENSP00000439625.1:p.Asn390His | |
| NM_001042663.1:c.1099A>C | NP_001036128.1:p.Asn367His | |
| NM_001042664.1:c.931A>C | NP_001036129.1:p.Asn311His | |
| NM_001042665.1:c.931A>C | NP_001036130.1:p.Asn311His | |
| NM_001265592.1:c.1168A>C | NP_001252521.1:p.Asn390His | |
| NM_001265593.1:c.1138A>C | NP_001252522.1:p.Asn380His | |
| NM_001265594.1:c.931A>C | NP_001252523.1:p.Asn311His | |
| NM_020631.4:c.931A>C | NP_065682.2:p.Asn311His | |
| NM_198681.3:c.1162A>C | NP_941374.2:p.Asn388His | |
| NM_001042663.2:c.1099A>C | NP_001036128.1:p.Asn367His | |
| NM_001265594.2:c.931A>C | NP_001252523.1:p.Asn311His | |
| NM_020631.5:c.931A>C | NP_065682.2:p.Asn311His | |
| NM_001042663.3:c.1042A>C | NP_001036128.2:p.Asn348His | |
| NM_001265592.2:c.1042A>C | NP_001252521.2:p.Asn348His | |
| NM_020631.6:c.931A>C MANE Select | NP_065682.2:p.Asn311His | |
| NM_198681.4:c.931A>C | NP_941374.3:p.Asn311His |