Linked Data
dbSNP Id:
rs754501270
ExAC:
17:7979019 G / T
gnomAD v2:
17-7979019-G-T
gnomAD v4:
17-8075701-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8075701G>T , CM000679.2:g.8075701G>T | GRCh38 |
| NC_000017.10:g.7979019G>T , CM000679.1:g.7979019G>T | GRCh37 |
| NC_000017.9:g.7919744G>T | NCBI36 |
| NG_007099.1:g.17003C>A | |
| NG_007099.2:g.17016C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647874.1:c.1548C>A MANE Select | ENSP00000497784.1:p.Ile516= | |
| ENST00000649809.1:c.612C>A | ENSP00000496845.1:p.Ile204= | |
| ENST00000319144.4:c.1548C>A | ENSP00000315167.4:p.Ile516= | |
| ENST00000577351.5:n.479+474C>A | ||
| NM_001139.2:c.1548C>A | NP_001130.1:p.Ile516= | |
| NM_001139.3:c.1548C>A MANE Select | NP_001130.1:p.Ile516= |