Linked Data
dbSNP Id:
rs6933125
ExAC:
6:139609755 T / C
gnomAD v2:
6-139609755-T-C
gnomAD v3:
6-139288618-T-C
gnomAD v4:
6-139288618-T-C
COSMIC:
COSM3683977
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.139288618T>C , CM000668.2:g.139288618T>C | GRCh38 |
| NC_000006.11:g.139609755T>C , CM000668.1:g.139609755T>C | GRCh37 |
| NC_000006.10:g.139651448T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358430.8:c.282A>G MANE Select | ENSP00000351206.3:p.Ser94= | |
| ENST00000358430.7:c.282A>G | ENSP00000351206.3:p.Ser94= | |
| NM_153235.3:c.282A>G | NP_694967.3:p.Ser94= | |
| XM_005266836.1:c.282A>G | XP_005266893.1:p.Ser94= | |
| XM_011535505.1:c.282A>G | XP_011533807.1:p.Ser94= | |
| XR_428028.2:n.511+1716T>C | ||
| XR_942314.1:n.468A>G | ||
| XR_942315.1:n.468A>G | ||
| XR_942316.1:n.468A>G | ||
| XR_942317.1:n.468A>G | ||
| XM_011535505.3:c.282A>G | XP_011533807.1:p.Ser94= | |
| XM_017010322.2:c.282A>G | XP_016865811.1:p.Ser94= | |
| XM_024446341.1:c.282A>G | XP_024302109.1:p.Ser94= | |
| XR_942317.3:n.525A>G | ||
| NM_153235.4:c.282A>G MANE Select | NP_694967.3:p.Ser94= |