Linked Data
ClinVar Variation Id:
14203
ClinVar RCV Id:
RCV000015267
dbSNP Id:
rs121917732
ExAC:
5:112399807 C / T
gnomAD v2:
5-112399807-C-T
gnomAD v3:
5-113064110-C-T
gnomAD v4:
5-113064110-C-T
PubMed:
PMID:1848370
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.113064110C>T , CM000667.2:g.113064110C>T | GRCh38 |
| NC_000005.9:g.112399807C>T , CM000667.1:g.112399807C>T | GRCh37 |
| NC_000005.8:g.112427706C>T | NCBI36 |
| NG_012265.1:g.429721G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000302475.9:c.1517G>A | ENSP00000305617.4:p.Arg506Gln | |
| ENST00000408903.7:c.2087G>A MANE Select | ENSP00000386227.3:p.Arg696Gln | |
| ENST00000302475.8:c.1517G>A | ENSP00000305617.4:p.Arg506Gln | |
| ENST00000408903.6:c.2087G>A | ENSP00000386227.3:p.Arg696Gln | |
| ENST00000514701.5:c.1517G>A | ENSP00000485220.1:p.Arg506Gln | |
| ENST00000515367.6:c.1328G>A | ENSP00000421615.2:p.Arg443Gln | |
| NM_001085377.1:c.2087G>A | NP_001078846.1:p.Arg696Gln | |
| NM_002387.2:c.1517G>A | NP_002378.1:p.Arg506Gln | |
| XM_005271991.2:c.1517G>A | XP_005272048.1:p.Arg506Gln | |
| XM_005271991.3:c.1517G>A | XP_005272048.1:p.Arg506Gln | |
| XM_017009473.1:c.2087G>A | XP_016864962.1:p.Arg696Gln | |
| XM_017009474.1:c.1487G>A | XP_016864963.1:p.Arg496Gln | |
| XM_024446049.1:c.1328G>A | XP_024301817.1:p.Arg443Gln | |
| XM_024446050.1:c.1328G>A | XP_024301818.1:p.Arg443Gln | |
| XM_024446051.1:c.1328G>A | XP_024301819.1:p.Arg443Gln | |
| XM_024446052.1:c.1328G>A | XP_024301820.1:p.Arg443Gln | |
| NM_001085377.2:c.2087G>A MANE Select | NP_001078846.2:p.Arg696Gln | |
| NM_002387.3:c.1517G>A | NP_002378.2:p.Arg506Gln |