Linked Data
dbSNP Id:
rs1248903320
gnomAD v2:
15-89872191-C-G
gnomAD v3:
15-89328960-C-G
gnomAD v4:
15-89328960-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89328960C>G , CM000677.2:g.89328960C>G | GRCh38 |
| NC_000015.9:g.89872191C>G , CM000677.1:g.89872191C>G | GRCh37 |
| NC_000015.8:g.87673195C>G | NCBI36 |
| NG_008218.1:g.10836G>C | |
| NG_008218.2:g.10836G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.1006G>C | ENSP00000516154.1:p.Ala336Pro | |
| ENST00000268124.11:c.1006G>C MANE Select | ENSP00000268124.5:p.Ala336Pro | |
| ENST00000530292.3:c.607G>C | ENSP00000432885.2:p.Ala203Pro | |
| ENST00000635986.2:c.1006G>C | ENSP00000490653.2:p.Ala336Pro | |
| ENST00000636774.1:c.1006G>C | ENSP00000489799.1:p.Ala336Pro | |
| ENST00000637264.1:c.78G>C | ||
| ENST00000666746.1:c.663G>C | ||
| ENST00000672071.1:n.1204G>C | ||
| ENST00000672923.2:n.3G>C | ||
| ENST00000268124.9:c.1006G>C | ENSP00000268124.5:p.Ala336Pro | |
| ENST00000442287.6:c.1006G>C | ENSP00000399851.2:p.Ala336Pro | |
| ENST00000631044.2:c.*389G>C | ENSP00000486730.1:n.*389G>C | |
| NM_001126131.1:c.1006G>C | NP_001119603.1:p.Ala336Pro | |
| NM_002693.2:c.1006G>C | NP_002684.1:p.Ala336Pro | |
| NM_001126131.2:c.1006G>C | NP_001119603.1:p.Ala336Pro | |
| NM_002693.3:c.1006G>C MANE Select | NP_002684.1:p.Ala336Pro |