Linked Data
dbSNP Id:
rs1242103172
gnomAD v2:
3-50230726-G-C
gnomAD v3:
3-50193293-G-C
gnomAD v4:
3-50193293-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.50193293G>C , CM000665.2:g.50193293G>C | GRCh38 |
| NC_000003.11:g.50230726G>C , CM000665.1:g.50230726G>C | GRCh37 |
| NC_000003.10:g.50205730G>C | NCBI36 |
| NG_009831.1:g.6684G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000232461.8:c.178G>C MANE Select | ENSP00000232461.3:p.Glu60Gln | |
| ENST00000232461.7:c.178G>C | ENSP00000232461.3:p.Glu60Gln | |
| ENST00000433068.5:c.178G>C | ENSP00000387555.1:p.Glu60Gln | |
| ENST00000440836.1:c.34G>C | ENSP00000403537.1:p.Glu12Gln | |
| NM_000172.3:c.178G>C | NP_000163.2:p.Glu60Gln | |
| NM_144499.2:c.178G>C | NP_653082.1:p.Glu60Gln | |
| XM_011533595.1:c.34G>C | XP_011531897.1:p.Glu12Gln | |
| XM_011533596.1:c.34G>C | XP_011531898.1:p.Glu12Gln | |
| XR_940416.1:n.458G>C | ||
| NM_000172.4:c.178G>C | NP_000163.2:p.Glu60Gln | |
| NM_144499.3:c.178G>C MANE Select | NP_653082.1:p.Glu60Gln |