Linked Data
ClinVar Variation Id:
593757
dbSNP Id:
rs200901072
ExAC:
7:117243664 G / C
gnomAD v2:
7-117243664-G-C
gnomAD v3:
7-117603610-G-C
gnomAD v4:
7-117603610-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117603610G>C , CM000669.2:g.117603610G>C | GRCh38 |
| NC_000007.13:g.117243664G>C , CM000669.1:g.117243664G>C | GRCh37 |
| NC_000007.12:g.117030900G>C | NCBI36 |
| NG_016465.4:g.142827G>C , LRG_663:g.142827G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647720.2:c.2736G>C | ENSP00000497673.2:p.Ser912= | |
| ENST00000647978.2:c.*2450G>C | ENSP00000497658.1:n.*2450G>C | |
| ENST00000649781.2:c.2553G>C | ENSP00000497203.1:p.Ser851= | |
| ENST00000685018.2:c.2736G>C | ENSP00000510194.2:p.Ser912= | |
| ENST00000687278.2:c.2736G>C | ENSP00000509593.2:p.Ser912= | |
| ENST00000699585.1:c.2736G>C | ENSP00000514456.1:p.Ser912= | |
| ENST00000699598.1:c.2736G>C | ENSP00000514467.1:p.Ser912= | |
| ENST00000699599.1:c.2736G>C | ENSP00000514468.1:p.Ser912= | |
| ENST00000699600.1:c.2736G>C | ENSP00000514469.1:p.Ser912= | |
| ENST00000699601.1:c.*1036G>C | ENSP00000514470.1:n.*1036G>C | |
| ENST00000699602.1:c.2736G>C | ENSP00000514471.1:p.Ser912= | |
| ENST00000699604.1:c.*2560G>C | ENSP00000514472.1:n.*2560G>C | |
| ENST00000699605.1:c.2310G>C | ENSP00000514473.1:p.Ser770= | |
| ENST00000687278.1:c.327G>C | ENSP00000509593.1:p.Ser109= | |
| ENST00000003084.11:c.2736G>C MANE Select | ENSP00000003084.6:p.Ser912= | |
| ENST00000647720.1:c.386G>C | ||
| ENST00000648260.1:c.1518G>C | ENSP00000497957.1:p.Ser506= | |
| ENST00000649406.1:c.2553G>C | ENSP00000497965.1:p.Ser851= | |
| ENST00000649781.1:c.2553G>C | ENSP00000497203.1:p.Ser851= | |
| ENST00000003084.10:c.2736G>C | ENSP00000003084.6:p.Ser912= | |
| ENST00000426809.5:c.2646G>C | ENSP00000389119.1:p.Ser882= | |
| NM_000492.3:c.2736G>C , LRG_663t1:c.2736G>C | NP_000483.3:p.Ser912= | |
| XM_011515751.1:c.2826G>C | XP_011514053.1:p.Ser942= | |
| XM_011515752.1:c.2826G>C | XP_011514054.1:p.Ser942= | |
| XM_011515753.1:c.2493G>C | XP_011514055.1:p.Ser831= | |
| XM_011515754.1:c.2493G>C | XP_011514056.1:p.Ser831= | |
| NM_000492.4:c.2736G>C MANE Select | NP_000483.3:p.Ser912= |