Linked Data
ClinVar Variation Id:
2364
ClinVar RCV Id:
RCV000002460
RCV000504807
RCV000504646
RCV000725950
RCV000626731
RCV000678538
RCV002251860
RCV003407259
dbSNP Id:
rs121909398
ExAC:
2:182423344 G / A
gnomAD v2:
2-182423344-G-A
gnomAD v3:
2-181558617-G-A
gnomAD v4:
2-181558617-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.181558617G>A , CM000664.2:g.181558617G>A | GRCh38 |
| NC_000002.11:g.182423344G>A , CM000664.1:g.182423344G>A | GRCh37 |
| NC_000002.10:g.182131589G>A | NCBI36 |
| NG_021178.1:g.103491C>T | |
| NG_021178.2:g.103491C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684145.1:c.13C>T | ENSP00000508396.1:p.Arg5Ter | |
| ENST00000410087.8:c.769C>T MANE Select | ENSP00000386725.3:p.Arg257Ter | |
| ENST00000339098.9:c.847C>T | ENSP00000341159.5:p.Arg283Ter | |
| ENST00000374967.6:c.705C>T | ENSP00000364106.2:n.705C>T | |
| ENST00000374969.6:c.482-8909C>T | ENSP00000364108.2:n.482-8909C>T | |
| ENST00000374970.6:c.614-8909C>T | ENSP00000364109.2:n.614-8909C>T | |
| ENST00000409440.7:c.715C>T | ENSP00000387080.3:p.Arg239Ter | |
| ENST00000410087.7:c.769C>T | ENSP00000386725.3:p.Arg257Ter | |
| ENST00000421817.5:c.*51C>T | ENSP00000411466.1:n.*51C>T | |
| ENST00000452174.5:c.573C>T | ENSP00000409198.1:n.573C>T | |
| ENST00000479558.5:n.767C>T | ||
| ENST00000494398.5:n.769C>T | ||
| NM_001030311.2:c.847C>T | NP_001025482.1:p.Arg283Ter | |
| NM_001030312.2:c.482-8909C>T | NP_001025483.1:n.482-8909C>T | |
| NM_001030313.2:c.614-8909C>T | NP_001025484.1:n.614-8909C>T | |
| NM_001160277.1:c.715C>T | NP_001153749.1:p.Arg239Ter | |
| NM_201548.4:c.769C>T | NP_963842.1:p.Arg257Ter | |
| NR_027689.1:n.674C>T | ||
| NR_027690.1:n.806C>T | ||
| NM_201548.5:c.769C>T MANE Select | NP_963842.1:p.Arg257Ter | |
| NM_001030311.3:c.847C>T | NP_001025482.1:p.Arg283Ter | |
| NM_001030312.3:c.482-8909C>T | NP_001025483.1:n.482-8909C>T | |
| NM_001030313.3:c.614-8909C>T | NP_001025484.1:n.614-8909C>T | |
| NM_001160277.2:c.715C>T | NP_001153749.1:p.Arg239Ter | |
| NR_027689.2:n.672C>T | ||
| NR_027690.2:n.804C>T |