Linked Data
ClinVar Variation Id:
16212
ClinVar RCV Id:
RCV000017598
dbSNP Id:
rs121434580
PubMed:
PMID:15115768
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.2027636A>C , CM000663.2:g.2027636A>C | GRCh38 |
| NC_000001.10:g.1959075A>C , CM000663.1:g.1959075A>C | GRCh37 |
| NC_000001.9:g.1948935A>C | NCBI36 |
| NG_008168.1:g.13308A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378585.7:c.530A>C MANE Select | ENSP00000367848.4:p.Glu177Ala | |
| ENST00000638411.1:c.561A>C | ENSP00000491632.1:p.Gly187= | |
| ENST00000638604.1:n.594A>C | ||
| ENST00000638763.1:c.273A>C | ||
| ENST00000638771.1:c.530A>C | ENSP00000492435.1:p.Glu177Ala | |
| ENST00000638804.1:c.8A>C | ENSP00000491871.1:p.Glu3Ala | |
| ENST00000639045.1:c.*516A>C | ENSP00000491997.1:n.*516A>C | |
| ENST00000639070.1:n.1109A>C | ||
| ENST00000639777.1:n.1134A>C | ||
| ENST00000640030.1:c.470A>C | ENSP00000491411.1:p.Glu157Ala | |
| ENST00000640067.1:c.530A>C | ENSP00000491844.1:p.Glu177Ala | |
| ENST00000640317.1:n.384A>C | ||
| ENST00000640423.1:n.539A>C | ||
| ENST00000640892.1:n.742A>C | ||
| ENST00000640949.1:c.530A>C | ENSP00000492500.1:p.Glu177Ala | |
| ENST00000640981.1:c.337A>C | ||
| ENST00000378585.5:c.530A>C | ENSP00000367848.4:p.Glu177Ala | |
| NM_000815.4:c.530A>C | NP_000806.2:p.Glu177Ala | |
| XM_011541194.1:c.569A>C | XP_011539496.1:p.Glu190Ala | |
| XM_011541194.3:c.569A>C | XP_011539496.1:p.Glu190Ala | |
| XM_017000936.1:c.1235A>C | XP_016856425.1:p.Glu412Ala | |
| NM_000815.5:c.530A>C MANE Select | NP_000806.2:p.Glu177Ala |