Linked Data
dbSNP Id:
rs782311024
ExAC:
9:136131320 C / T
gnomAD v2:
9-136131320-C-T
gnomAD v4:
9-133255933-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133255933C>T , CM000671.2:g.133255933C>T | GRCh38 |
| NC_000009.11:g.136131320C>T , CM000671.1:g.136131320C>T | GRCh37 |
| NC_000009.10:g.135121141C>T | NCBI36 |
| NG_006669.1:g.21735G>A | |
| NG_006669.2:g.24283G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000453660.4:n.827G>A | ||
| ENST00000647353.1:n.54-4781G>A | ||
| ENST00000679909.1:c.28+19229G>A | ENSP00000506089.1:n.28+19229G>A | |
| ENST00000453660.3:n.809G>A | ||
| ENST00000538324.2:c.795G>A | ENSP00000483018.1:p.Leu265= | |
| ENST00000611156.4:c.795G>A | ENSP00000483265.1:p.Leu265= | |
| NM_020469.2:c.798G>A | NP_065202.2:p.Leu266= | |
| NM_020469.3:c.798G>A | NP_065202.2:p.Leu266= |