Linked Data
dbSNP Id:
rs3732379
ExAC:
3:39307256 C / T
gnomAD v2:
3-39307256-C-T
gnomAD v3:
3-39265765-C-T
gnomAD v4:
3-39265765-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.39265765C>T , CM000665.2:g.39265765C>T | GRCh38 |
| NC_000003.11:g.39307256C>T , CM000665.1:g.39307256C>T | GRCh37 |
| NC_000003.10:g.39282260C>T | NCBI36 |
| NG_016362.1:g.20971G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000399220.3:c.745G>A MANE Select | ENSP00000382166.3:p.Val249Ile | |
| ENST00000358309.3:c.841G>A | ENSP00000351059.3:p.Val281Ile | |
| ENST00000399220.2:c.745G>A | ENSP00000382166.2:p.Val249Ile | |
| ENST00000541347.5:c.745G>A | ENSP00000439140.1:p.Val249Ile | |
| ENST00000542107.5:c.745G>A | ENSP00000444928.1:p.Val249Ile | |
| NM_001171171.1:c.745G>A | NP_001164642.1:p.Val249Ile | |
| NM_001171172.1:c.745G>A | NP_001164643.1:p.Val249Ile | |
| NM_001171174.1:c.841G>A | NP_001164645.1:p.Val281Ile | |
| NM_001337.3:c.745G>A | NP_001328.1:p.Val249Ile | |
| NM_001337.4:c.745G>A MANE Select | NP_001328.1:p.Val249Ile | |
| NM_001171171.2:c.745G>A | NP_001164642.1:p.Val249Ile | |
| NM_001171172.2:c.745G>A | NP_001164643.1:p.Val249Ile |