Linked Data
dbSNP Id:
rs4065321
gnomAD v2:
17-38143548-C-T
gnomAD v3:
17-39987295-C-T
gnomAD v4:
17-39987295-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39987295C>T , CM000679.2:g.39987295C>T | GRCh38 |
| NC_000017.10:g.38143548C>T , CM000679.1:g.38143548C>T | GRCh37 |
| NC_000017.9:g.35397074C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264639.9:c.549+583C>T MANE Select | ENSP00000264639.4:n.549+583C>T | |
| ENST00000264639.8:c.549+583C>T | ENSP00000264639.4:n.549+583C>T | |
| ENST00000415039.7:c.*23+583C>T | ENSP00000407410.3:n.*23+583C>T | |
| ENST00000540504.2:c.104+583C>T | ||
| ENST00000580980.1:n.29+583C>T | ||
| NM_002809.3:c.549+583C>T | NP_002800.2:n.549+583C>T | |
| NM_002809.4:c.549+583C>T MANE Select | NP_002800.2:n.549+583C>T |