Linked Data
dbSNP Id:
rs770469881
ExAC:
2:208988956 C / T
gnomAD v2:
2-208988956-C-T
gnomAD v3:
2-208124232-C-T
gnomAD v4:
2-208124232-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.208124232C>T , CM000664.2:g.208124232C>T | GRCh38 |
| NC_000002.11:g.208988956C>T , CM000664.1:g.208988956C>T | GRCh37 |
| NC_000002.10:g.208697201C>T | NCBI36 |
| NG_008039.1:g.5358G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264376.5:c.132G>A MANE Select | ENSP00000264376.4:p.Met44Ile | |
| ENST00000264376.4:c.132G>A | ENSP00000264376.4:p.Met44Ile | |
| NM_006891.3:c.132G>A | NP_008822.2:p.Met44Ile | |
| NR_038437.1:n.97+5007C>T | ||
| NM_006891.4:c.132G>A MANE Select | NP_008822.2:p.Met44Ile |