Linked Data
ClinVar Variation Id:
1706050
dbSNP Id:
rs1328842974
gnomAD v3:
7-117665542-T-C
gnomAD v4:
7-117665542-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117665542T>C , CM000669.2:g.117665542T>C | GRCh38 |
| NC_000007.13:g.117305596T>C , CM000669.1:g.117305596T>C | GRCh37 |
| NC_000007.12:g.117092832T>C | NCBI36 |
| NG_016465.4:g.204759T>C , LRG_663:g.204759T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647720.2:c.*429T>C | ENSP00000497673.2:n.*429T>C | |
| ENST00000647978.2:c.*3934T>C | ENSP00000497658.1:n.*3934T>C | |
| ENST00000649781.2:c.4037T>C | ENSP00000497203.1:p.Met1346Thr | |
| ENST00000685018.2:c.*433T>C | ENSP00000510194.2:n.*433T>C | |
| ENST00000687278.2:c.*873T>C | ENSP00000509593.2:n.*873T>C | |
| ENST00000699585.1:c.*429T>C | ENSP00000514456.1:n.*429T>C | |
| ENST00000699598.1:c.4220T>C | ENSP00000514467.1:p.Met1407Thr | |
| ENST00000699599.1:c.*433T>C | ENSP00000514468.1:n.*433T>C | |
| ENST00000699600.1:c.*881T>C | ENSP00000514469.1:n.*881T>C | |
| ENST00000699601.1:c.*2595T>C | ENSP00000514470.1:n.*2595T>C | |
| ENST00000699602.1:c.4214T>C | ENSP00000514471.1:p.Met1405Thr | |
| ENST00000699604.1:c.*4044T>C | ENSP00000514472.1:n.*4044T>C | |
| ENST00000699605.1:c.3794T>C | ENSP00000514473.1:p.Met1265Thr | |
| ENST00000699606.1:n.2388T>C | ||
| ENST00000685018.1:c.1084T>C | ENSP00000510194.1:n.1084T>C | |
| ENST00000687278.1:c.2007T>C | ENSP00000509593.1:n.2007T>C | |
| ENST00000689011.1:c.802T>C | ||
| ENST00000003084.11:c.4220T>C MANE Select | ENSP00000003084.6:p.Met1407Thr | |
| ENST00000647720.1:c.1670T>C | ||
| ENST00000649781.1:c.4037T>C | ENSP00000497203.1:p.Met1346Thr | |
| ENST00000003084.10:c.4220T>C | ENSP00000003084.6:p.Met1407Thr | |
| ENST00000426809.5:c.4130T>C | ENSP00000389119.1:p.Met1377Thr | |
| ENST00000600166.1:c.346T>C | ||
| NM_000492.3:c.4220T>C , LRG_663t1:c.4220T>C | NP_000483.3:p.Met1407Thr | |
| XM_011515751.1:c.4310T>C | XP_011514053.1:p.Met1437Thr | |
| XM_011515752.1:c.4310T>C | XP_011514054.1:p.Met1437Thr | |
| XM_011515753.1:c.3977T>C | XP_011514055.1:p.Met1326Thr | |
| XM_011515754.1:c.3977T>C | XP_011514056.1:p.Met1326Thr | |
| NM_000492.4:c.4220T>C MANE Select | NP_000483.3:p.Met1407Thr |