Linked Data
ClinVar Variation Id:
7739
ClinVar RCV Id:
RCV000008178
RCV000023146
RCV000059335
RCV000489962
RCV000709869
RCV000778148
RCV000844695
RCV001083921
RCV001258308
dbSNP Id:
rs79204362
ExAC:
2:38298394 C / T
gnomAD v2:
2-38298394-C-T
gnomAD v3:
2-38071251-C-T
gnomAD v4:
2-38071251-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.38071251C>T , CM000664.2:g.38071251C>T | GRCh38 |
| NC_000002.11:g.38298394C>T , CM000664.1:g.38298394C>T | GRCh37 |
| NC_000002.10:g.38151898C>T | NCBI36 |
| NG_008386.2:g.9851G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000490576.2:c.1103G>A | ENSP00000478839.2:p.Arg368His | |
| ENST00000610745.5:c.1103G>A MANE Select | ENSP00000478561.1:p.Arg368His | |
| ENST00000492443.1:n.481G>A | ||
| ENST00000494864.1:c.-11G>A | ENSP00000479876.1:n.-11G>A | |
| ENST00000610745.4:c.1103G>A | ENSP00000478561.1:p.Arg368His | |
| ENST00000613082.1:n.498G>A | ||
| ENST00000614273.1:c.1103G>A | ENSP00000483678.1:p.Arg368His | |
| NM_000104.3:c.1103G>A | NP_000095.2:p.Arg368His | |
| NM_000104.4:c.1103G>A MANE Select | NP_000095.2:p.Arg368His |