Linked Data
ClinVar Variation Id:
349675
dbSNP Id:
rs370606261
ExAC:
4:79205547 C / T
gnomAD v2:
4-79205547-C-T
gnomAD v3:
4-78284393-C-T
gnomAD v4:
4-78284393-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.78284393C>T , CM000666.2:g.78284393C>T | GRCh38 |
| NC_000004.11:g.79205547C>T , CM000666.1:g.79205547C>T | GRCh37 |
| NC_000004.10:g.79424571C>T | NCBI36 |
| NG_015812.1:g.231824C>T | |
| NG_015812.2:g.231824C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325942.11:c.1256-12C>T | ENSP00000326330.6:n.1256-12C>T | |
| ENST00000502446.6:c.1256-12C>T | ENSP00000423645.2:n.1256-12C>T | |
| ENST00000508900.2:c.1256-12C>T | ENSP00000423809.2:n.1256-12C>T | |
| ENST00000682513.1:c.1256-12C>T | ENSP00000508201.1:n.1256-12C>T | |
| ENST00000682583.1:n.469-12C>T | ||
| ENST00000684159.1:c.1256-12C>T | ENSP00000506875.1:n.1256-12C>T | |
| ENST00000512123.4:c.1256-12C>T MANE Select | ENSP00000422834.2:n.1256-12C>T | |
| ENST00000264899.10:c.844+17098C>T | ENSP00000264899.7:n.844+17098C>T | |
| ENST00000325942.10:c.1256-12C>T | ENSP00000326330.6:n.1256-12C>T | |
| ENST00000502446.5:c.1042-12C>T | ||
| ENST00000508900.1:c.783-12C>T | ||
| ENST00000512123.3:c.1256-12C>T | ENSP00000422834.2:n.1256-12C>T | |
| NM_001166133.1:c.1256-12C>T | NP_001159605.1:n.1256-12C>T | |
| NM_025074.6:c.1256-12C>T | NP_079350.5:n.1256-12C>T | |
| XM_006714314.1:c.1256-12C>T | XP_006714377.1:n.1256-12C>T | |
| XM_006714316.1:c.1256-12C>T | XP_006714379.1:n.1256-12C>T | |
| XM_006714316.3:c.1256-12C>T | XP_006714379.1:n.1256-12C>T | |
| NM_025074.7:c.1256-12C>T MANE Select | NP_079350.5:n.1256-12C>T | |
| NM_001166133.2:c.1256-12C>T | NP_001159605.1:n.1256-12C>T |