Linked Data
dbSNP Id:
rs2108280671
gnomAD v4:
3-142470087-T-C
MyVariant Identifiers:
chr3:g.142188929T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.142470087T>C , CM000665.2:g.142470087T>C | GRCh38 |
| NC_000003.11:g.142188929T>C , CM000665.1:g.142188929T>C | GRCh37 |
| NC_000003.10:g.143671619T>C | NCBI36 |
| NG_008951.1:g.113740A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000350721.9:c.6318A>G MANE Select | ENSP00000343741.4:p.Lys2106= | |
| ENST00000513291.2:n.1502A>G | ||
| ENST00000654170.1:n.1161A>G | ||
| ENST00000656590.1:c.5108A>G | ||
| ENST00000661310.1:c.6126A>G | ENSP00000499589.1:p.Lys2042= | |
| ENST00000665483.1:n.173A>G | ||
| ENST00000666447.1:n.153A>G | ||
| ENST00000666943.1:n.1782A>G | ||
| ENST00000350721.8:c.6318A>G | ENSP00000343741.4:p.Lys2106= | |
| NM_001184.3:c.6318A>G | NP_001175.2:p.Lys2106= | |
| XM_011512924.1:c.6324A>G | XP_011511226.1:p.Lys2108= | |
| XM_011512925.1:c.6132A>G | XP_011511227.1:p.Lys2044= | |
| XR_924147.1:n.6413A>G | ||
| XR_924148.1:n.6413A>G | ||
| XR_924149.1:n.6292A>G | ||
| NM_001354579.1:c.6126A>G | NP_001341508.1:p.Lys2042= | |
| XR_001740179.2:n.6407A>G | ||
| XR_001740180.2:n.6461A>G | ||
| XR_001740181.2:n.6340A>G | ||
| XR_001740182.1:n.6292A>G | ||
| XR_002959543.1:n.6517A>G | ||
| XR_924148.2:n.6413A>G | ||
| NM_001184.4:c.6318A>G MANE Select | NP_001175.2:p.Lys2106= | |
| NM_001354579.2:c.6126A>G | NP_001341508.1:p.Lys2042= |