Linked Data
dbSNP Id:
rs1257439220
gnomAD v2:
1-173879026-T-G
gnomAD v3:
1-173909888-T-G
gnomAD v4:
1-173909888-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173909888T>G , CM000663.2:g.173909888T>G | GRCh38 |
| NC_000001.10:g.173879026T>G , CM000663.1:g.173879026T>G | GRCh37 |
| NC_000001.9:g.172145649T>G | NCBI36 |
| NG_012462.1:g.12491A>C , LRG_577:g.12491A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367698.4:c.817A>C MANE Select | ENSP00000356671.3:p.Lys273Gln | |
| ENST00000367698.3:c.817A>C | ENSP00000356671.3:p.Lys273Gln | |
| ENST00000487183.1:n.468A>C | ||
| ENST00000617423.4:c.559+1976A>C | ENSP00000478688.1:n.559+1976A>C | |
| NM_000488.3:c.817A>C , LRG_577t1:c.817A>C | NP_000479.1:p.Lys273Gln | |
| XM_005245198.2:c.673A>C | XP_005245255.1:p.Lys225Gln | |
| NM_001365052.1:c.673A>C | NP_001351981.1:p.Lys225Gln | |
| NM_000488.4:c.817A>C MANE Select | NP_000479.1:p.Lys273Gln | |
| NM_001365052.2:c.673A>C | NP_001351981.1:p.Lys225Gln | |
| NM_001386302.1:c.940A>C | NP_001373231.1:p.Lys314Gln | |
| NM_001386303.1:c.898A>C | NP_001373232.1:p.Lys300Gln | |
| NM_001386304.1:c.796A>C | NP_001373233.1:p.Lys266Gln | |
| NM_001386305.1:c.763-3A>C | NP_001373234.1:n.763-3A>C | |
| NM_001386306.1:c.601A>C | NP_001373235.1:p.Lys201Gln |