Linked Data
ClinVar Variation Id:
280382
dbSNP Id:
rs748394238
ExAC:
2:182413468 G / A
gnomAD v2:
2-182413468-G-A
gnomAD v3:
2-181548741-G-A
gnomAD v4:
2-181548741-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.181548741G>A , CM000664.2:g.181548741G>A | GRCh38 |
| NC_000002.11:g.182413468G>A , CM000664.1:g.182413468G>A | GRCh37 |
| NC_000002.10:g.182121713G>A | NCBI36 |
| NG_021178.1:g.113367C>T | |
| NG_021178.2:g.113367C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684145.1:c.256C>T | ENSP00000508396.1:p.Arg86Ter | |
| ENST00000410087.8:c.1012C>T MANE Select | ENSP00000386725.3:p.Arg338Ter | |
| ENST00000339098.9:c.1090C>T | ENSP00000341159.5:p.Arg364Ter | |
| ENST00000374967.6:c.948C>T | ENSP00000364106.2:n.948C>T | |
| ENST00000374969.6:c.673C>T | ENSP00000364108.2:p.Arg225Ter | |
| ENST00000374970.6:c.805C>T | ENSP00000364109.2:p.Arg269Ter | |
| ENST00000409440.7:c.958C>T | ENSP00000387080.3:p.Arg320Ter | |
| ENST00000410087.7:c.1012C>T | ENSP00000386725.3:p.Arg338Ter | |
| ENST00000421817.5:c.*294C>T | ENSP00000411466.1:n.*294C>T | |
| ENST00000452174.5:c.816C>T | ENSP00000409198.1:n.816C>T | |
| ENST00000479558.5:n.1010C>T | ||
| ENST00000494398.5:n.1012C>T | ||
| NM_001030311.2:c.1090C>T | NP_001025482.1:p.Arg364Ter | |
| NM_001030312.2:c.673C>T | NP_001025483.1:p.Arg225Ter | |
| NM_001030313.2:c.805C>T | NP_001025484.1:p.Arg269Ter | |
| NM_001160277.1:c.958C>T | NP_001153749.1:p.Arg320Ter | |
| NM_201548.4:c.1012C>T | NP_963842.1:p.Arg338Ter | |
| NR_027689.1:n.917C>T | ||
| NR_027690.1:n.1049C>T | ||
| NM_201548.5:c.1012C>T MANE Select | NP_963842.1:p.Arg338Ter | |
| NM_001030311.3:c.1090C>T | NP_001025482.1:p.Arg364Ter | |
| NM_001030312.3:c.673C>T | NP_001025483.1:p.Arg225Ter | |
| NM_001030313.3:c.805C>T | NP_001025484.1:p.Arg269Ter | |
| NM_001160277.2:c.958C>T | NP_001153749.1:p.Arg320Ter | |
| NR_027689.2:n.915C>T | ||
| NR_027690.2:n.1047C>T |