Linked Data
dbSNP Id:
rs564904298
ExAC:
17:39998516 T / C
gnomAD v2:
17-39998516-T-C
gnomAD v3:
17-41842264-T-C
gnomAD v4:
17-41842264-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41842264T>C , CM000679.2:g.41842264T>C | GRCh38 |
| NC_000017.10:g.39998516T>C , CM000679.1:g.39998516T>C | GRCh37 |
| NC_000017.9:g.37252042T>C | NCBI36 |
| NG_051246.1:g.11580T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293303.5:c.636T>C MANE Select | ENSP00000293303.4:p.Ser212= | |
| ENST00000293303.4:c.636T>C | ENSP00000293303.4:p.Ser212= | |
| NM_152467.3:c.636T>C | NP_689680.2:p.Ser212= | |
| XM_011524706.1:c.636T>C | XP_011523008.1:p.Ser212= | |
| NM_001329595.1:c.636T>C | NP_001316524.1:p.Ser212= | |
| NM_001329596.1:c.372T>C | NP_001316525.1:p.Ser124= | |
| NM_152467.4:c.636T>C | NP_689680.2:p.Ser212= | |
| NM_001329596.2:c.372T>C | NP_001316525.1:p.Ser124= | |
| NM_152467.5:c.636T>C MANE Select | NP_689680.2:p.Ser212= |