Linked Data
dbSNP Id:
rs1201846931
gnomAD v2:
14-88401091-C-G
gnomAD v3:
14-87934747-C-G
gnomAD v4:
14-87934747-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.87934747C>G , CM000676.2:g.87934747C>G | GRCh38 |
| NC_000014.8:g.88401091C>G , CM000676.1:g.88401091C>G | GRCh37 |
| NC_000014.7:g.87470844C>G | NCBI36 |
| NG_011853.2:g.63817G>C | |
| NG_011853.3:g.63817G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261304.7:c.2043G>C MANE Select | ENSP00000261304.2:p.Val681= | |
| ENST00000261304.6:c.2043G>C | ENSP00000261304.2:p.Val681= | |
| ENST00000393568.8:c.1974G>C | ENSP00000377198.4:p.Val658= | |
| ENST00000393569.6:c.1965G>C | ENSP00000377199.2:p.Val655= | |
| ENST00000544807.6:c.1744-748G>C | ENSP00000437513.2:n.1744-748G>C | |
| ENST00000555000.5:c.1279-748G>C | ENSP00000450472.1:n.1279-748G>C | |
| NM_000153.3:c.2043G>C | NP_000144.2:p.Val681= | |
| NM_001201401.1:c.1974G>C | NP_001188330.1:p.Val658= | |
| NM_001201402.1:c.1965G>C | NP_001188331.1:p.Val655= | |
| XM_011536618.1:c.1875G>C | XP_011534920.1:p.Val625= | |
| XM_011536618.2:c.1875G>C | XP_011534920.1:p.Val625= | |
| NM_000153.4:c.2043G>C MANE Select | NP_000144.2:p.Val681= | |
| NM_001201401.2:c.1974G>C | NP_001188330.1:p.Val658= | |
| NM_001201402.2:c.1965G>C | NP_001188331.1:p.Val655= |