Linked Data
ClinVar Variation Id:
2887522
ClinVar RCV Id:
RCV003650028
dbSNP Id:
rs761116750
ExAC:
5:13770917 A / C
gnomAD v2:
5-13770917-A-C
gnomAD v4:
5-13770808-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13770808A>C , CM000667.2:g.13770808A>C | GRCh38 |
| NC_000005.9:g.13770917A>C , CM000667.1:g.13770917A>C | GRCh37 |
| NC_000005.8:g.13823917A>C | NCBI36 |
| NG_013081.1:g.178673T>G | |
| NG_013081.2:g.178673T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.9546T>G MANE Select | ENSP00000265104.4:p.Ile3182Met | |
| ENST00000681290.1:c.9501T>G | ENSP00000505288.1:p.Ile3167Met | |
| ENST00000265104.4:c.9546T>G | ENSP00000265104.4:p.Ile3182Met | |
| ENST00000504001.3:n.258T>G | ||
| NM_001369.2:c.9546T>G | NP_001360.1:p.Ile3182Met | |
| XM_005248262.2:c.9501T>G | XP_005248319.1:p.Ile3167Met | |
| XM_005248262.3:c.9654T>G | XP_005248319.2:p.Ile3218Met | |
| XM_017009177.1:c.9654T>G | XP_016864666.1:p.Ile3218Met | |
| XM_017009178.1:c.8559T>G | XP_016864667.1:p.Ile2853Met | |
| XM_017009179.2:c.8559T>G | XP_016864668.1:p.Ile2853Met | |
| XM_017009180.1:c.9654T>G | XP_016864669.1:p.Ile3218Met | |
| XM_017009181.1:c.9654T>G | XP_016864670.1:p.Ile3218Met | |
| XM_017009182.1:c.9654T>G | XP_016864671.1:p.Ile3218Met | |
| XM_017009183.1:c.9654T>G | XP_016864672.1:p.Ile3218Met | |
| XM_017009185.1:c.4743T>G | XP_016864674.1:p.Ile1581Met | |
| XM_017009186.1:c.4296T>G | XP_016864675.1:p.Ile1432Met | |
| XM_017009188.1:c.3633T>G | XP_016864677.1:p.Ile1211Met | |
| XM_024454388.1:c.8559T>G | XP_024310156.1:p.Ile2853Met | |
| XM_024454389.1:c.8148T>G | XP_024310157.1:p.Ile2716Met | |
| NM_001369.3:c.9546T>G MANE Select | NP_001360.1:p.Ile3182Met |