Linked Data
ClinVar Variation Id:
193519
dbSNP Id:
rs368855330
ExAC:
2:182521707 C / T
gnomAD v2:
2-182521707-C-T
gnomAD v3:
2-181656980-C-T
gnomAD v4:
2-181656980-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.181656980C>T , CM000664.2:g.181656980C>T | GRCh38 |
| NC_000002.11:g.182521707C>T , CM000664.1:g.182521707C>T | GRCh37 |
| NC_000002.10:g.182229952C>T | NCBI36 |
| NG_021178.1:g.5128G>A | |
| NG_021178.2:g.5128G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684145.1:c.-455+23450G>A | ENSP00000508396.1:n.-455+23450G>A | |
| ENST00000410087.8:c.27G>A MANE Select | ENSP00000386725.3:p.Arg9= | |
| ENST00000339098.9:c.27G>A | ENSP00000341159.5:p.Arg9= | |
| ENST00000374967.6:c.27G>A | ENSP00000364106.2:p.Arg9= | |
| ENST00000374969.6:c.27G>A | ENSP00000364108.2:p.Arg9= | |
| ENST00000374970.6:c.27G>A | ENSP00000364109.2:p.Arg9= | |
| ENST00000409440.7:c.27G>A | ENSP00000387080.3:p.Arg9= | |
| ENST00000410087.7:c.27G>A | ENSP00000386725.3:p.Arg9= | |
| ENST00000421817.5:c.27G>A | ENSP00000411466.1:p.Arg9= | |
| ENST00000452174.5:c.27G>A | ENSP00000409198.1:p.Arg9= | |
| ENST00000476070.1:n.137G>A | ||
| ENST00000479558.5:n.236+23450G>A | ||
| ENST00000494398.5:n.27G>A | ||
| ENST00000497337.1:n.212+23450G>A | ||
| NM_001030311.2:c.27G>A | NP_001025482.1:p.Arg9= | |
| NM_001030312.2:c.27G>A | NP_001025483.1:p.Arg9= | |
| NM_001030313.2:c.27G>A | NP_001025484.1:p.Arg9= | |
| NM_001160277.1:c.27G>A | NP_001153749.1:p.Arg9= | |
| NM_201548.4:c.27G>A | NP_963842.1:p.Arg9= | |
| NR_027689.1:n.128G>A | ||
| NR_027690.1:n.128G>A | ||
| NM_201548.5:c.27G>A MANE Select | NP_963842.1:p.Arg9= | |
| NM_001030311.3:c.27G>A | NP_001025482.1:p.Arg9= | |
| NM_001030312.3:c.27G>A | NP_001025483.1:p.Arg9= | |
| NM_001030313.3:c.27G>A | NP_001025484.1:p.Arg9= | |
| NM_001160277.2:c.27G>A | NP_001153749.1:p.Arg9= | |
| NR_027689.2:n.126G>A | ||
| NR_027690.2:n.126G>A |