Linked Data
dbSNP Id:
rs749753899
ExAC:
3:142168390 G / A
gnomAD v3:
3-142449548-G-A
gnomAD v4:
3-142449548-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.142449548G>A , CM000665.2:g.142449548G>A | GRCh38 |
| NC_000003.11:g.142168390G>A , CM000665.1:g.142168390G>A | GRCh37 |
| NC_000003.10:g.143651080G>A | NCBI36 |
| NG_008951.1:g.134279C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000350721.9:c.7816C>T MANE Select | ENSP00000343741.4:p.Arg2606Ter | |
| ENST00000513291.2:n.6525C>T | ||
| ENST00000653893.1:n.2674C>T | ||
| ENST00000654170.1:n.2659C>T | ||
| ENST00000656114.1:n.2902C>T | ||
| ENST00000656590.1:c.6743C>T | ||
| ENST00000658083.1:n.2996C>T | ||
| ENST00000661310.1:c.7624C>T | ENSP00000499589.1:p.Arg2542Ter | |
| ENST00000665483.1:n.5356C>T | ||
| ENST00000666447.1:n.4319C>T | ||
| ENST00000666943.1:n.4548C>T | ||
| ENST00000350721.8:c.7816C>T | ENSP00000343741.4:p.Arg2606Ter | |
| ENST00000504521.5:c.405C>T | ENSP00000422553.1:n.405C>T | |
| ENST00000513291.1:c.4880C>T | ||
| ENST00000515810.1:c.242C>T | ENSP00000421870.1:n.242C>T | |
| NM_001184.3:c.7816C>T | NP_001175.2:p.Arg2606Ter | |
| XM_011512924.1:c.7822C>T | XP_011511226.1:p.Arg2608Ter | |
| XM_011512925.1:c.7630C>T | XP_011511227.1:p.Arg2544Ter | |
| XR_924147.1:n.10573C>T | ||
| XR_924148.1:n.8048C>T | ||
| NM_001354579.1:c.7624C>T | NP_001341508.1:p.Arg2542Ter | |
| XR_001740179.2:n.8042C>T | ||
| XR_924148.2:n.8048C>T | ||
| NM_001184.4:c.7816C>T MANE Select | NP_001175.2:p.Arg2606Ter | |
| NM_001354579.2:c.7624C>T | NP_001341508.1:p.Arg2542Ter |