Linked Data
dbSNP Id:
rs371649178
ExAC:
17:7533458 T / C
gnomAD v2:
17-7533458-T-C
gnomAD v3:
17-7630140-T-C
gnomAD v4:
17-7630140-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7630140T>C , CM000679.2:g.7630140T>C | GRCh38 |
| NC_000017.10:g.7533458T>C , CM000679.1:g.7533458T>C | GRCh37 |
| NC_000017.9:g.7474183T>C | NCBI36 |
| NG_011981.2:g.21077T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380450.9:c.-33T>C MANE Select | ENSP00000369816.4:n.-33T>C | |
| ENST00000340624.9:c.-63-276T>C | ENSP00000345675.6:n.-63-276T>C | |
| ENST00000441599.6:c.-33T>C | ENSP00000393426.2:n.-33T>C | |
| ENST00000570547.5:c.-61-278T>C | ENSP00000458875.1:n.-61-278T>C | |
| ENST00000572182.5:c.-61-278T>C | ENSP00000458816.1:n.-61-278T>C | |
| ENST00000572262.5:c.-61-278T>C | ENSP00000459999.1:n.-61-278T>C | |
| ENST00000574539.5:c.-61-278T>C | ENSP00000458181.1:n.-61-278T>C | |
| ENST00000575314.5:c.-61-278T>C | ENSP00000458559.1:n.-61-278T>C | |
| ENST00000575729.5:c.-63-276T>C | ENSP00000458719.1:n.-63-276T>C | |
| ENST00000576478.5:c.-61-278T>C | ENSP00000461133.1:n.-61-278T>C | |
| ENST00000576728.5:c.-61-278T>C | ENSP00000459620.1:n.-61-278T>C | |
| NM_001040.4:c.-33T>C | NP_001031.2:n.-33T>C | |
| NM_001146279.2:c.-33T>C | NP_001139751.1:n.-33T>C | |
| NM_001146280.2:c.-33T>C | NP_001139752.1:n.-33T>C | |
| NM_001146281.2:c.-33T>C | NP_001139753.1:n.-33T>C | |
| NM_001289113.1:c.-63-276T>C | NP_001276042.1:n.-63-276T>C | |
| NM_001289114.1:c.-61-278T>C | NP_001276043.1:n.-61-278T>C | |
| NM_001289115.1:c.-63-276T>C | NP_001276044.1:n.-63-276T>C | |
| NM_001289116.1:c.-289T>C | NP_001276045.1:n.-289T>C | |
| XM_011523991.1:c.-33T>C | XP_011522293.1:n.-33T>C | |
| NM_001040.5:c.-33T>C MANE Select | NP_001031.2:n.-33T>C | |
| NM_001146279.3:c.-33T>C | NP_001139751.1:n.-33T>C | |
| NM_001146280.3:c.-33T>C | NP_001139752.1:n.-33T>C | |
| NM_001289116.2:c.-289T>C | NP_001276045.1:n.-289T>C | |
| NM_001146281.3:c.-33T>C | NP_001139753.1:n.-33T>C | |
| NM_001289113.2:c.-63-276T>C | NP_001276042.1:n.-63-276T>C | |
| NM_001289114.2:c.-61-278T>C | NP_001276043.1:n.-61-278T>C | |
| NM_001289115.2:c.-63-276T>C | NP_001276044.1:n.-63-276T>C |