Linked Data
ClinVar Variation Id:
1731176
ClinVar RCV Id:
RCV002452167
dbSNP Id:
rs141150961
gnomAD v3:
7-117614656-G-C
gnomAD v4:
7-117614656-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117614656G>C , CM000669.2:g.117614656G>C | GRCh38 |
| NC_000007.13:g.117254710G>C , CM000669.1:g.117254710G>C | GRCh37 |
| NC_000007.12:g.117041946G>C | NCBI36 |
| NG_016465.4:g.153873G>C , LRG_663:g.153873G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647720.2:c.3411G>C | ENSP00000497673.2:p.Met1137Ile | |
| ENST00000647978.2:c.*3125G>C | ENSP00000497658.1:n.*3125G>C | |
| ENST00000649781.2:c.3228G>C | ENSP00000497203.1:p.Met1076Ile | |
| ENST00000685018.2:c.3411G>C | ENSP00000510194.2:p.Met1137Ile | |
| ENST00000687278.2:c.3411G>C | ENSP00000509593.2:p.Met1137Ile | |
| ENST00000699585.1:c.3411G>C | ENSP00000514456.1:p.Met1137Ile | |
| ENST00000699598.1:c.3411G>C | ENSP00000514467.1:p.Met1137Ile | |
| ENST00000699599.1:c.3411G>C | ENSP00000514468.1:p.Met1137Ile | |
| ENST00000699600.1:c.3411G>C | ENSP00000514469.1:p.Met1137Ile | |
| ENST00000699601.1:c.*1786G>C | ENSP00000514470.1:n.*1786G>C | |
| ENST00000699602.1:c.3405G>C | ENSP00000514471.1:p.Met1135Ile | |
| ENST00000699604.1:c.*3235G>C | ENSP00000514472.1:n.*3235G>C | |
| ENST00000699605.1:c.2985G>C | ENSP00000514473.1:p.Met995Ile | |
| ENST00000685018.1:c.159G>C | ENSP00000510194.1:p.Met53Ile | |
| ENST00000687278.1:c.1002G>C | ENSP00000509593.1:p.Met334Ile | |
| ENST00000003084.11:c.3411G>C MANE Select | ENSP00000003084.6:p.Met1137Ile | |
| ENST00000647720.1:c.1061G>C | ||
| ENST00000648260.1:c.2193G>C | ENSP00000497957.1:p.Met731Ile | |
| ENST00000649406.1:c.3228G>C | ENSP00000497965.1:p.Met1076Ile | |
| ENST00000649781.1:c.3228G>C | ENSP00000497203.1:p.Met1076Ile | |
| ENST00000003084.10:c.3411G>C | ENSP00000003084.6:p.Met1137Ile | |
| ENST00000426809.5:c.3321G>C | ENSP00000389119.1:p.Met1107Ile | |
| ENST00000468795.1:c.236G>C | ||
| NM_000492.3:c.3411G>C , LRG_663t1:c.3411G>C | NP_000483.3:p.Met1137Ile | |
| XM_011515751.1:c.3501G>C | XP_011514053.1:p.Met1167Ile | |
| XM_011515752.1:c.3501G>C | XP_011514054.1:p.Met1167Ile | |
| XM_011515753.1:c.3168G>C | XP_011514055.1:p.Met1056Ile | |
| XM_011515754.1:c.3168G>C | XP_011514056.1:p.Met1056Ile | |
| NM_000492.4:c.3411G>C MANE Select | NP_000483.3:p.Met1137Ile |