Linked Data
dbSNP Id:
rs754615936
ExAC:
9:6558625 G / T
gnomAD v2:
9-6558625-G-T
gnomAD v4:
9-6558625-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6558625G>T , CM000671.2:g.6558625G>T | GRCh38 |
| NC_000009.11:g.6558625G>T , CM000671.1:g.6558625G>T | GRCh37 |
| NC_000009.10:g.6548625G>T | NCBI36 |
| NG_016397.1:g.92068C>A , LRG_643:g.92068C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.1986C>A MANE Select | ENSP00000370737.4:p.Gly662= | |
| ENST00000460457.2:n.146C>A | ||
| ENST00000638233.1:n.421C>A | ||
| ENST00000638661.1:c.186C>A | ENSP00000491369.1:p.Gly62= | |
| ENST00000638694.1:n.173C>A | ||
| ENST00000639318.1:c.186C>A | ENSP00000491932.1:p.Gly62= | |
| ENST00000639364.1:n.1686C>A | ||
| ENST00000639443.1:n.1554C>A | ||
| ENST00000639954.1:n.1694C>A | ||
| ENST00000640208.1:c.186C>A | ENSP00000491895.1:p.Gly62= | |
| ENST00000640505.1:n.225C>A | ||
| ENST00000640592.1:n.1869C>A | ||
| ENST00000321612.6:c.1986C>A | ENSP00000370737.3:p.Gly662= | |
| ENST00000460457.1:n.125C>A | ||
| NM_000170.2:c.1986C>A , LRG_643t1:c.1986C>A | NP_000161.2:p.Gly662= | |
| NM_000170.3:c.1986C>A MANE Select | NP_000161.2:p.Gly662= |