Linked Data
ClinVar Variation Id:
6797
ClinVar RCV Id:
RCV000007199
dbSNP Id:
rs121909761
PubMed:
PMID:12402266
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90705508C>A , CM000667.2:g.90705508C>A | GRCh38 |
| NC_000005.9:g.90001325C>A , CM000667.1:g.90001325C>A | GRCh37 |
| NC_000005.8:g.90037081C>A | NCBI36 |
| NG_007083.1:g.151709C>A | |
| NG_007083.2:g.181165C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000405460.9:c.8495C>A MANE Select | ENSP00000384582.2:p.Ser2832Ter | |
| ENST00000639431.1:c.265+29299C>A | ENSP00000491057.1:n.265+29299C>A | |
| ENST00000639473.1:n.3954C>A | ||
| ENST00000640012.1:c.2302C>A | ||
| ENST00000640374.1:n.1639C>A | ||
| ENST00000640403.1:c.5786C>A | ENSP00000492531.1:p.Ser1929Ter | |
| ENST00000640779.1:c.3224C>A | ||
| ENST00000405460.6:c.8495C>A | ENSP00000384582.2:p.Ser2832Ter | |
| ENST00000509621.1:c.1192C>A | ||
| NM_032119.3:c.8495C>A | NP_115495.3:p.Ser2832Ter | |
| NR_003149.1:n.8508C>A | ||
| XM_011543675.1:c.8492C>A | XP_011541977.1:p.Ser2831Ter | |
| XM_011543676.1:c.8414C>A | XP_011541978.1:p.Ser2805Ter | |
| XM_011543677.1:c.5798C>A | XP_011541979.1:p.Ser1933Ter | |
| XM_011543678.1:c.8495C>A | XP_011541980.1:p.Ser2832Ter | |
| XM_011543679.1:c.8495C>A | XP_011541981.1:p.Ser2832Ter | |
| NM_032119.4:c.8495C>A MANE Select | NP_115495.3:p.Ser2832Ter | |
| XM_017009963.2:c.8516C>A | XP_016865452.1:p.Ser2839Ter | |
| XM_017009964.2:c.8513C>A | XP_016865453.1:p.Ser2838Ter | |
| XM_017009965.1:c.8513C>A | XP_016865454.1:p.Ser2838Ter | |
| XM_017009966.2:c.8435C>A | XP_016865455.1:p.Ser2812Ter | |
| XM_017009967.1:c.8420C>A | XP_016865456.1:p.Ser2807Ter | |
| XM_017009968.2:c.8516C>A | XP_016865457.1:p.Ser2839Ter | |
| XM_017009969.2:c.8516C>A | XP_016865458.1:p.Ser2839Ter | |
| XM_017009970.2:c.8516C>A | XP_016865459.1:p.Ser2839Ter | |
| XM_017009971.2:c.8516C>A | XP_016865460.1:p.Ser2839Ter | |
| XM_017009972.1:c.1634C>A | XP_016865461.1:p.Ser545Ter | |
| XM_017009973.1:c.1613C>A | XP_016865462.1:p.Ser538Ter | |
| XM_017009974.2:c.8516C>A | XP_016865463.1:p.Ser2839Ter | |
| NR_003149.2:n.8511C>A |