Linked Data
ClinVar Variation Id:
1972311
ClinVar RCV Id:
RCV002746093
dbSNP Id:
rs61757600
ExAC:
12:125435264 G / C
gnomAD v2:
12-125435264-G-C
gnomAD v3:
12-124950718-G-C
gnomAD v4:
12-124950718-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.124950718G>C , CM000674.2:g.124950718G>C | GRCh38 |
| NC_000012.11:g.125435264G>C , CM000674.1:g.125435264G>C | GRCh37 |
| NC_000012.10:g.124001217G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308736.7:c.2955C>G MANE Select | ENSP00000311135.2:p.Ile985Met | |
| ENST00000544745.2:c.2426C>G | ||
| ENST00000308736.6:c.2955C>G | ENSP00000311135.2:p.Ile985Met | |
| ENST00000539298.1:n.3055C>G | ||
| ENST00000542400.5:n.1430C>G | ||
| ENST00000544745.1:c.2316C>G | ENSP00000439009.1:p.Ile772Met | |
| NM_032656.3:c.2955C>G | NP_116045.2:p.Ile985Met | |
| XM_005253590.2:c.2955C>G | XP_005253647.1:p.Ile985Met | |
| XM_011538597.1:c.2955C>G | XP_011536899.1:p.Ile985Met | |
| XM_005253590.3:c.2955C>G | XP_005253647.1:p.Ile985Met | |
| XR_001748819.1:n.3058C>G | ||
| XR_001748820.1:n.3048C>G | ||
| NM_032656.4:c.2955C>G MANE Select | NP_116045.2:p.Ile985Met |