Linked Data
dbSNP Id:
rs1390142442
gnomAD v2:
3-133475817-G-C
gnomAD v3:
3-133756973-G-C
gnomAD v4:
3-133756973-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.133756973G>C , CM000665.2:g.133756973G>C | GRCh38 |
| NC_000003.11:g.133475817G>C , CM000665.1:g.133475817G>C | GRCh37 |
| NC_000003.10:g.134958507G>C | NCBI36 |
| NG_013080.1:g.15841G>C | |
| NG_013080.2:g.99976G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000402696.9:c.834G>C MANE Select | ENSP00000385834.3:p.Lys278Asn | |
| ENST00000402696.7:c.834G>C | ENSP00000385834.3:p.Lys278Asn | |
| ENST00000485977.1:c.199G>C | ENSP00000418716.1:p.Gly67Arg | |
| NM_001063.3:c.834G>C | NP_001054.1:p.Lys278Asn | |
| XM_011513100.1:c.834G>C | XP_011511402.1:p.Lys278Asn | |
| NM_001354703.1:c.702G>C | NP_001341632.1:p.Lys234Asn | |
| NM_001354704.1:c.453G>C | NP_001341633.1:p.Lys151Asn | |
| NM_001063.4:c.834G>C MANE Select | NP_001054.2:p.Lys278Asn | |
| NM_001354703.2:c.702G>C | NP_001341632.2:p.Lys234Asn | |
| NM_001354704.2:c.453G>C | NP_001341633.2:p.Lys151Asn |