Linked Data
dbSNP Id:
rs1418355128
gnomAD v2:
19-45411177-G-C
gnomAD v3:
19-44907920-G-C
gnomAD v4:
19-44907920-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.44907920G>C , CM000681.2:g.44907920G>C | GRCh38 |
| NC_000019.9:g.45411177G>C , CM000681.1:g.45411177G>C | GRCh37 |
| NC_000019.8:g.50103017G>C | NCBI36 |
| NG_007084.2:g.7139G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252486.9:c.204G>C MANE Select | ENSP00000252486.3:p.Glu68Asp | |
| ENST00000252486.8:c.204G>C | ENSP00000252486.3:p.Glu68Asp | |
| ENST00000425718.1:c.204G>C | ENSP00000410423.1:p.Glu68Asp | |
| ENST00000434152.5:c.282G>C | ENSP00000413653.2:p.Glu94Asp | |
| ENST00000446996.5:c.204G>C | ENSP00000413135.1:p.Glu68Asp | |
| NM_000041.3:c.204G>C | NP_000032.1:p.Glu68Asp | |
| NM_001302688.1:c.282G>C | NP_001289617.1:p.Glu94Asp | |
| NM_001302689.1:c.204G>C | NP_001289618.1:p.Glu68Asp | |
| NM_001302690.1:c.204G>C | NP_001289619.1:p.Glu68Asp | |
| NM_001302691.1:c.204G>C | NP_001289620.1:p.Glu68Asp | |
| NM_000041.4:c.204G>C MANE Select | NP_000032.1:p.Glu68Asp | |
| NM_001302688.2:c.282G>C | NP_001289617.1:p.Glu94Asp | |
| NM_001302689.2:c.204G>C | NP_001289618.1:p.Glu68Asp | |
| NM_001302691.2:c.204G>C | NP_001289620.1:p.Glu68Asp | |
| NM_001302690.2:c.204G>C | NP_001289619.1:p.Glu68Asp |