Linked Data
dbSNP Id:
rs998722973
gnomAD v2:
5-110407591-G-T
gnomAD v3:
5-111071893-G-T
gnomAD v4:
5-111071893-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.111071893G>T , CM000667.2:g.111071893G>T | GRCh38 |
| NC_000005.9:g.110407591G>T , CM000667.1:g.110407591G>T | GRCh37 |
| NC_000005.8:g.110435490G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344895.4:c.3G>T MANE Select | ENSP00000339804.3:p.Met1Ile | |
| ENST00000344895.3:c.3G>T | ENSP00000339804.3:p.Met1Ile | |
| ENST00000420978.6:c.35-32G>T | ENSP00000399099.2:n.35-32G>T | |
| NM_033035.4:c.3G>T | NP_149024.1:p.Met1Ile | |
| NR_045089.1:n.1439-32G>T | ||
| NM_033035.5:c.3G>T MANE Select | NP_149024.1:p.Met1Ile | |
| NR_045089.2:n.1457-32G>T |