Linked Data
dbSNP Id:
rs1280096268
gnomAD v2:
9-136131148-A-G
gnomAD v3:
9-133255761-A-G
gnomAD v4:
9-133255761-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133255761A>G , CM000671.2:g.133255761A>G | GRCh38 |
| NC_000009.11:g.136131148A>G , CM000671.1:g.136131148A>G | GRCh37 |
| NC_000009.10:g.135120969A>G | NCBI36 |
| NG_006669.1:g.21907T>C | |
| NG_006669.2:g.24455T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000453660.4:n.999T>C | ||
| ENST00000647353.1:n.54-4609T>C | ||
| ENST00000679909.1:c.28+19401T>C | ENSP00000506089.1:n.28+19401T>C | |
| ENST00000453660.3:n.981T>C | ||
| ENST00000538324.2:c.967T>C | ENSP00000483018.1:p.Leu323= | |
| ENST00000611156.4:c.967T>C | ENSP00000483265.1:p.Leu323= | |
| NM_020469.2:c.970T>C | NP_065202.2:p.Leu324= | |
| NM_020469.3:c.970T>C | NP_065202.2:p.Leu324= |