Linked Data
ClinVar Variation Id:
333009
dbSNP Id:
rs140898616
ExAC:
2:182423378 C / G
gnomAD v2:
2-182423378-C-G
gnomAD v3:
2-181558651-C-G
gnomAD v4:
2-181558651-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.181558651C>G , CM000664.2:g.181558651C>G | GRCh38 |
| NC_000002.11:g.182423378C>G , CM000664.1:g.182423378C>G | GRCh37 |
| NC_000002.10:g.182131623C>G | NCBI36 |
| NG_021178.1:g.103457G>C | |
| NG_021178.2:g.103457G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684145.1:c.-22G>C | ENSP00000508396.1:n.-22G>C | |
| ENST00000410087.8:c.735G>C MANE Select | ENSP00000386725.3:p.Leu245= | |
| ENST00000339098.9:c.813G>C | ENSP00000341159.5:p.Leu271= | |
| ENST00000374967.6:c.671G>C | ENSP00000364106.2:n.671G>C | |
| ENST00000374969.6:c.482-8943G>C | ENSP00000364108.2:n.482-8943G>C | |
| ENST00000374970.6:c.614-8943G>C | ENSP00000364109.2:n.614-8943G>C | |
| ENST00000409440.7:c.681G>C | ENSP00000387080.3:p.Leu227= | |
| ENST00000410087.7:c.735G>C | ENSP00000386725.3:p.Leu245= | |
| ENST00000421817.5:c.*17G>C | ENSP00000411466.1:n.*17G>C | |
| ENST00000452174.5:c.539G>C | ENSP00000409198.1:n.539G>C | |
| ENST00000479558.5:n.733G>C | ||
| ENST00000494398.5:n.735G>C | ||
| NM_001030311.2:c.813G>C | NP_001025482.1:p.Leu271= | |
| NM_001030312.2:c.482-8943G>C | NP_001025483.1:n.482-8943G>C | |
| NM_001030313.2:c.614-8943G>C | NP_001025484.1:n.614-8943G>C | |
| NM_001160277.1:c.681G>C | NP_001153749.1:p.Leu227= | |
| NM_201548.4:c.735G>C | NP_963842.1:p.Leu245= | |
| NR_027689.1:n.640G>C | ||
| NR_027690.1:n.772G>C | ||
| NM_201548.5:c.735G>C MANE Select | NP_963842.1:p.Leu245= | |
| NM_001030311.3:c.813G>C | NP_001025482.1:p.Leu271= | |
| NM_001030312.3:c.482-8943G>C | NP_001025483.1:n.482-8943G>C | |
| NM_001030313.3:c.614-8943G>C | NP_001025484.1:n.614-8943G>C | |
| NM_001160277.2:c.681G>C | NP_001153749.1:p.Leu227= | |
| NR_027689.2:n.638G>C | ||
| NR_027690.2:n.770G>C |