Linked Data
ClinVar Variation Id:
1413165
ClinVar RCV Id:
RCV001925728
dbSNP Id:
rs201118975
gnomAD v2:
18-21118574-C-G
gnomAD v3:
18-23538610-C-G
gnomAD v4:
18-23538610-C-G
MyVariant Identifiers:
chr18:g.21118574C>G (hg19)
chr18:g.21118574_21118575delinsGT (hg19)
chr18:g.23538610C>G (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.23538610C>G , CM000680.2:g.23538610C>G | GRCh38 |
| NC_000018.9:g.21118574C>G , CM000680.1:g.21118574C>G | GRCh37 |
| NC_000018.8:g.19372572C>G | NCBI36 |
| NG_012795.1:g.53008G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269228.10:c.2973G>C MANE Select | ENSP00000269228.4:p.Gln991His | |
| ENST00000269228.9:c.2973G>C | ENSP00000269228.4:p.Gln991His | |
| ENST00000591051.1:c.2051G>C | ||
| ENST00000591075.1:n.606G>C | ||
| ENST00000591955.1:n.316G>C | ||
| NM_000271.4:c.2973G>C | NP_000262.2:p.Gln991His | |
| XM_005258277.1:c.3024G>C | XP_005258334.1:p.Gln1008His | |
| XM_005258278.3:c.3024G>C | XP_005258335.1:p.Gln1008His | |
| XM_005258279.1:c.2973G>C | XP_005258336.1:p.Gln991His | |
| XM_006722479.2:c.3024G>C | XP_006722542.1:p.Gln1008His | |
| XM_011526015.1:c.2559G>C | XP_011524317.1:p.Gln853His | |
| XM_005258278.5:c.3024G>C | XP_005258335.1:p.Gln1008His | |
| XM_005258279.2:c.2973G>C | XP_005258336.1:p.Gln991His | |
| XM_006722479.3:c.3024G>C | XP_006722542.1:p.Gln1008His | |
| XM_017025784.1:c.3024G>C | XP_016881273.1:p.Gln1008His | |
| XM_017025785.1:c.3024G>C | XP_016881274.1:p.Gln1008His | |
| XM_017025786.1:c.2973G>C | XP_016881275.1:p.Gln991His | |
| XM_017025787.1:c.2973G>C | XP_016881276.1:p.Gln991His | |
| NM_000271.5:c.2973G>C MANE Select | NP_000262.2:p.Gln991His |