Linked Data
ClinVar Variation Id:
128865
dbSNP Id:
rs626169
ExAC:
18:77513721 T / C
gnomAD v2:
18-77513721-T-C
gnomAD v3:
18-79753721-T-C
gnomAD v4:
18-79753721-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.79753721T>C , CM000680.2:g.79753721T>C | GRCh38 |
| NC_000018.9:g.77513721T>C , CM000680.1:g.77513721T>C | GRCh37 |
| NC_000018.8:g.75614709T>C | NCBI36 |
| NG_007988.1:g.78921T>C , LRG_236:g.78921T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000299543.9:c.1109T>C | ||
| ENST00000590599.2:n.1891T>C | ||
| ENST00000613122.5:c.2817T>C MANE Select | ENSP00000484525.2:p.Asp939= | |
| ENST00000075430.11:c.*50T>C | ENSP00000075430.7:n.*50T>C | |
| ENST00000299543.8:c.2460T>C | ENSP00000299543.8:p.Asp820= | |
| ENST00000590599.1:n.982T>C | ||
| ENST00000591598.5:c.2446T>C | ENSP00000465119.1:n.2446T>C | |
| ENST00000613122.4:c.2817T>C | ENSP00000484525.1:p.Asp939= | |
| NM_001202504.1:c.2460T>C | NP_001189433.1:p.Asp820= | |
| NM_004715.4:c.2817T>C , LRG_236t1:c.2817T>C | NP_004706.3:p.Asp939= | |
| NM_048368.3:c.*50T>C | NP_430255.2:n.*50T>C | |
| XM_005266782.2:c.*46T>C | XP_005266839.1:n.*46T>C | |
| XM_011526261.1:c.2487T>C | XP_011524563.1:p.Asp829= | |
| NM_001318511.1:c.*46T>C | NP_001305440.1:n.*46T>C | |
| XM_017026078.1:c.2262T>C | XP_016881567.1:p.Asp754= | |
| NM_001318511.2:c.*46T>C | NP_001305440.1:n.*46T>C | |
| NM_004715.5:c.2817T>C MANE Select | NP_004706.3:p.Asp939= | |
| NM_048368.4:c.*50T>C | NP_430255.2:n.*50T>C |