Linked Data
dbSNP Id:
rs1315444138
gnomAD v2:
2-208988863-C-A
gnomAD v3:
2-208124139-C-A
gnomAD v4:
2-208124139-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.208124139C>A , CM000664.2:g.208124139C>A | GRCh38 |
| NC_000002.11:g.208988863C>A , CM000664.1:g.208988863C>A | GRCh37 |
| NC_000002.10:g.208697108C>A | NCBI36 |
| NG_008039.1:g.5451G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264376.5:c.225G>T MANE Select | ENSP00000264376.4:p.Ser75= | |
| ENST00000264376.4:c.225G>T | ENSP00000264376.4:p.Ser75= | |
| NM_006891.3:c.225G>T | NP_008822.2:p.Ser75= | |
| NR_038437.1:n.97+4914C>A | ||
| NM_006891.4:c.225G>T MANE Select | NP_008822.2:p.Ser75= |