Linked Data
dbSNP Id:
rs1395389917
gnomAD v2:
2-208988887-C-T
gnomAD v3:
2-208124163-C-T
gnomAD v4:
2-208124163-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.208124163C>T , CM000664.2:g.208124163C>T | GRCh38 |
| NC_000002.11:g.208988887C>T , CM000664.1:g.208988887C>T | GRCh37 |
| NC_000002.10:g.208697132C>T | NCBI36 |
| NG_008039.1:g.5427G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264376.5:c.201G>A MANE Select | ENSP00000264376.4:p.Gln67= | |
| ENST00000264376.4:c.201G>A | ENSP00000264376.4:p.Gln67= | |
| NM_006891.3:c.201G>A | NP_008822.2:p.Gln67= | |
| NR_038437.1:n.97+4938C>T | ||
| NM_006891.4:c.201G>A MANE Select | NP_008822.2:p.Gln67= |