Linked Data
ClinVar Variation Id:
333007
dbSNP Id:
rs183252158
ExAC:
2:182413580 A / G
gnomAD v2:
2-182413580-A-G
gnomAD v3:
2-181548853-A-G
gnomAD v4:
2-181548853-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.181548853A>G , CM000664.2:g.181548853A>G | GRCh38 |
| NC_000002.11:g.182413580A>G , CM000664.1:g.182413580A>G | GRCh37 |
| NC_000002.10:g.182121825A>G | NCBI36 |
| NG_021178.1:g.113255T>C | |
| NG_021178.2:g.113255T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684145.1:c.144T>C | ENSP00000508396.1:p.His48= | |
| ENST00000410087.8:c.900T>C MANE Select | ENSP00000386725.3:p.His300= | |
| ENST00000339098.9:c.978T>C | ENSP00000341159.5:p.His326= | |
| ENST00000374967.6:c.836T>C | ENSP00000364106.2:n.836T>C | |
| ENST00000374969.6:c.561T>C | ENSP00000364108.2:p.His187= | |
| ENST00000374970.6:c.693T>C | ENSP00000364109.2:p.His231= | |
| ENST00000409440.7:c.846T>C | ENSP00000387080.3:p.His282= | |
| ENST00000410087.7:c.900T>C | ENSP00000386725.3:p.His300= | |
| ENST00000421817.5:c.*182T>C | ENSP00000411466.1:n.*182T>C | |
| ENST00000452174.5:c.704T>C | ENSP00000409198.1:n.704T>C | |
| ENST00000479558.5:n.898T>C | ||
| ENST00000494398.5:n.900T>C | ||
| NM_001030311.2:c.978T>C | NP_001025482.1:p.His326= | |
| NM_001030312.2:c.561T>C | NP_001025483.1:p.His187= | |
| NM_001030313.2:c.693T>C | NP_001025484.1:p.His231= | |
| NM_001160277.1:c.846T>C | NP_001153749.1:p.His282= | |
| NM_201548.4:c.900T>C | NP_963842.1:p.His300= | |
| NR_027689.1:n.805T>C | ||
| NR_027690.1:n.937T>C | ||
| NM_201548.5:c.900T>C MANE Select | NP_963842.1:p.His300= | |
| NM_001030311.3:c.978T>C | NP_001025482.1:p.His326= | |
| NM_001030312.3:c.561T>C | NP_001025483.1:p.His187= | |
| NM_001030313.3:c.693T>C | NP_001025484.1:p.His231= | |
| NM_001160277.2:c.846T>C | NP_001153749.1:p.His282= | |
| NR_027689.2:n.803T>C | ||
| NR_027690.2:n.935T>C |