Linked Data
ClinVar Variation Id:
3070068
ClinVar RCV Id:
RCV004010100
dbSNP Id:
rs769981060
ExAC:
6:7583303 G / C
gnomAD v2:
6-7583303-G-C
gnomAD v4:
6-7583070-G-C
COSMIC:
COSM3715568
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.7583070G>C , CM000668.2:g.7583070G>C | GRCh38 |
| NC_000006.11:g.7583303G>C , CM000668.1:g.7583303G>C | GRCh37 |
| NC_000006.10:g.7528302G>C | NCBI36 |
| NG_008803.1:g.46434G>C , LRG_423:g.46434G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710359.1:c.4479G>C | ENSP00000518230.1:p.Gln1493His | |
| ENST00000379802.8:c.5808G>C MANE Select | ENSP00000369129.3:p.Gln1936His | |
| ENST00000379802.7:c.5808G>C | ENSP00000369129.3:p.Gln1936His | |
| ENST00000418664.2:c.4011G>C | ENSP00000396591.2:p.Gln1337His | |
| NM_001008844.1:c.4011G>C | NP_001008844.1:p.Gln1337His | |
| NM_004415.2:c.5808G>C , LRG_423t1:c.5808G>C | NP_004406.2:p.Gln1936His | |
| XM_011514323.1:c.4479G>C | XP_011512625.1:p.Gln1493His | |
| NM_001008844.2:c.4011G>C | NP_001008844.1:p.Gln1337His | |
| NM_001319034.1:c.4479G>C | NP_001305963.1:p.Gln1493His | |
| NM_004415.3:c.5808G>C | NP_004406.2:p.Gln1936His | |
| NM_004415.4:c.5808G>C MANE Select | NP_004406.2:p.Gln1936His | |
| NM_001008844.3:c.4011G>C | NP_001008844.1:p.Gln1337His | |
| NM_001319034.2:c.4479G>C | NP_001305963.1:p.Gln1493His |