Linked Data
dbSNP Id:
rs17132261
gnomAD v2:
5-110008214-C-T
gnomAD v3:
5-110672513-C-T
gnomAD v4:
5-110672513-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.110672513C>T , CM000667.2:g.110672513C>T | GRCh38 |
| NC_000005.9:g.110008214C>T , CM000667.1:g.110008214C>T | GRCh37 |
| NC_000005.8:g.110036113C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000455884.7:c.-12-5149G>A MANE Select | ENSP00000401477.2:n.-12-5149G>A | |
| ENST00000455884.6:c.-12-5149G>A | ENSP00000401477.2:n.-12-5149G>A | |
| ENST00000502857.6:n.80-5149G>A | ||
| ENST00000503527.6:n.311-5149G>A | ||
| ENST00000511883.6:c.-47-4784G>A | ENSP00000423904.2:n.-47-4784G>A | |
| ENST00000512003.7:c.-12-5149G>A | ENSP00000427785.2:n.-12-5149G>A | |
| ENST00000512577.5:n.397-5149G>A | ||
| ENST00000512886.5:c.-12-5149G>A | ENSP00000424807.1:n.-12-5149G>A | |
| ENST00000515278.6:c.-12-5149G>A | ENSP00000421614.2:n.-12-5149G>A | |
| ENST00000515518.6:n.46-30142G>A | ||
| NM_001039763.3:c.-12-5149G>A | NP_001034852.3:n.-12-5149G>A | |
| XM_006714670.2:c.-12-5149G>A | XP_006714733.1:n.-12-5149G>A | |
| XM_011543552.1:c.-12-5149G>A | XP_011541854.1:n.-12-5149G>A | |
| XM_011543554.1:c.-12-5149G>A | XP_011541856.1:n.-12-5149G>A | |
| XM_011543555.1:c.69-30142G>A | XP_011541857.1:n.69-30142G>A | |
| XM_011543556.1:c.69-30142G>A | XP_011541858.1:n.69-30142G>A | |
| XM_011543557.1:c.-12-5149G>A | XP_011541859.1:n.-12-5149G>A | |
| XM_011543558.1:c.-12-5149G>A | XP_011541860.1:n.-12-5149G>A | |
| XM_011543559.1:c.-12-5149G>A | XP_011541861.1:n.-12-5149G>A | |
| XM_011543561.1:c.-12-5149G>A | XP_011541863.1:n.-12-5149G>A | |
| XM_011543562.1:c.-12-5149G>A | XP_011541864.1:n.-12-5149G>A | |
| XM_011543563.1:c.-12-5149G>A | XP_011541865.1:n.-12-5149G>A | |
| XM_011543564.1:c.-12-5149G>A | XP_011541866.1:n.-12-5149G>A | |
| XM_011543565.1:c.-12-5149G>A | XP_011541867.1:n.-12-5149G>A | |
| XM_011543566.1:c.-215-30142G>A | XP_011541868.1:n.-215-30142G>A | |
| XM_011543567.1:c.-12-5149G>A | XP_011541869.1:n.-12-5149G>A | |
| XM_011543568.1:c.-229-30142G>A | XP_011541870.1:n.-229-30142G>A | |
| XR_948284.1:n.837-5149G>A | ||
| XR_948285.1:n.837-5149G>A | ||
| XR_948286.1:n.837-5149G>A | ||
| XR_948287.1:n.836-5149G>A | ||
| XM_006714670.3:c.-12-5149G>A | XP_006714733.1:n.-12-5149G>A | |
| XM_011543552.2:c.-12-5149G>A | XP_011541854.1:n.-12-5149G>A | |
| XM_011543555.2:c.69-30142G>A | XP_011541857.1:n.69-30142G>A | |
| XM_011543556.2:c.69-30142G>A | XP_011541858.1:n.69-30142G>A | |
| XM_011543557.2:c.-12-5149G>A | XP_011541859.1:n.-12-5149G>A | |
| XM_011543559.2:c.-12-5149G>A | XP_011541861.1:n.-12-5149G>A | |
| XM_011543561.2:c.-12-5149G>A | XP_011541863.1:n.-12-5149G>A | |
| XM_011543563.2:c.-12-5149G>A | XP_011541865.1:n.-12-5149G>A | |
| XM_011543564.3:c.-12-5149G>A | XP_011541866.1:n.-12-5149G>A | |
| XM_011543565.3:c.-12-5149G>A | XP_011541867.1:n.-12-5149G>A | |
| XM_011543566.2:c.-215-30142G>A | XP_011541868.1:n.-215-30142G>A | |
| XM_011543567.3:c.-12-5149G>A | XP_011541869.1:n.-12-5149G>A | |
| XM_017009705.2:c.-12-5149G>A | XP_016865194.1:n.-12-5149G>A | |
| XM_017009706.2:c.-12-5149G>A | XP_016865195.1:n.-12-5149G>A | |
| XM_017009707.1:c.-352-5149G>A | XP_016865196.1:n.-352-5149G>A | |
| XM_024446149.1:c.-12-5149G>A | XP_024301917.1:n.-12-5149G>A | |
| XR_001742181.1:n.851-5149G>A | ||
| XR_001742182.1:n.850-5149G>A | ||
| XR_948284.2:n.852-5149G>A | ||
| XR_948285.2:n.851-5149G>A | ||
| XR_948287.2:n.850-5149G>A | ||
| NM_001039763.4:c.-12-5149G>A MANE Select | NP_001034852.3:n.-12-5149G>A |