Linked Data
dbSNP Id:
rs2275957
ExAC:
8:37996327 G / T
gnomAD v2:
8-37996327-G-T
gnomAD v4:
8-38138809-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.38138809G>T , CM000670.2:g.38138809G>T | GRCh38 |
| NC_000008.10:g.37996327G>T , CM000670.1:g.37996327G>T | GRCh37 |
| NC_000008.9:g.38115484G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343823.11:c.1720-7G>T MANE Select | ENSP00000340896.5:n.1720-7G>T | |
| ENST00000343823.10:c.1720-7G>T | ENSP00000340896.5:n.1720-7G>T | |
| ENST00000428278.6:c.1438-7G>T | ENSP00000395310.2:n.1438-7G>T | |
| ENST00000517496.5:c.*1208-7G>T | ENSP00000430889.1:n.*1208-7G>T | |
| ENST00000520079.1:n.1315G>T | ||
| ENST00000521652.5:c.1339-7G>T | ENSP00000430259.1:n.1339-7G>T | |
| ENST00000521808.5:c.104-7G>T | ||
| ENST00000524247.5:c.506-7G>T | ||
| ENST00000545394.2:c.1303-7G>T | ENSP00000443606.1:n.1303-7G>T | |
| NM_001105214.2:c.1438-7G>T | NP_001098684.1:n.1438-7G>T | |
| NM_001261832.1:c.1339-7G>T | NP_001248761.1:n.1339-7G>T | |
| NM_001282272.1:c.1303-7G>T | NP_001269201.1:n.1303-7G>T | |
| NM_004674.4:c.1720-7G>T | NP_004665.2:n.1720-7G>T | |
| XM_005273682.1:c.1738-7G>T | XP_005273739.1:n.1738-7G>T | |
| XM_005273683.1:c.1456-7G>T | XP_005273740.1:n.1456-7G>T | |
| XM_006716412.1:c.1639-7G>T | XP_006716475.1:n.1639-7G>T | |
| XM_006716413.1:c.1621-7G>T | XP_006716476.1:n.1621-7G>T | |
| XM_006716413.3:c.1621-7G>T | XP_006716476.1:n.1621-7G>T | |
| NM_004674.5:c.1720-7G>T MANE Select | NP_004665.2:n.1720-7G>T |