Linked Data
dbSNP Id:
rs1784991718
gnomAD v3:
7-23165895-T-C
gnomAD v4:
7-23165895-T-C
MyVariant Identifiers:
chr7:g.23205514T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.23165895T>C , CM000669.2:g.23165895T>C | GRCh38 |
| NC_000007.13:g.23205514T>C , CM000669.1:g.23205514T>C | GRCh37 |
| NC_000007.12:g.23172039T>C | NCBI36 |
| NG_016983.1:g.65162T>C | |
| NG_016983.2:g.65162T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000339077.10:c.1134T>C MANE Select | ENSP00000343273.4:p.Cys378= | |
| ENST00000339077.9:c.1134T>C | ENSP00000343273.4:p.Cys378= | |
| ENST00000409689.5:c.990T>C | ENSP00000386263.1:p.Cys330= | |
| ENST00000469576.1:n.21T>C | ||
| ENST00000521082.5:c.*1142T>C | ENSP00000430351.1:n.*1142T>C | |
| NM_001031710.2:c.1134T>C | NP_001026880.2:p.Cys378= | |
| NM_018846.4:c.990T>C | NP_061334.4:p.Cys330= | |
| NR_033328.1:n.1558T>C | ||
| XM_006715753.1:c.1173T>C | XP_006715816.1:p.Cys391= | |
| XM_006715754.1:c.1107T>C | XP_006715817.1:p.Cys369= | |
| XM_006715755.1:c.1107T>C | XP_006715818.1:p.Cys369= | |
| XM_006715756.1:c.1029T>C | XP_006715819.1:p.Cys343= | |
| XM_006715753.3:c.1173T>C | XP_006715816.1:p.Cys391= | |
| XM_006715754.3:c.1107T>C | XP_006715817.1:p.Cys369= | |
| XM_006715755.3:c.1107T>C | XP_006715818.1:p.Cys369= | |
| XM_006715756.3:c.1029T>C | XP_006715819.1:p.Cys343= | |
| XM_017012439.2:c.1068T>C | XP_016867928.1:p.Cys356= | |
| NM_001031710.3:c.1134T>C MANE Select | NP_001026880.2:p.Cys378= | |
| NM_018846.5:c.990T>C | NP_061334.4:p.Cys330= | |
| NR_033328.2:n.1507T>C |