Linked Data
dbSNP Id:
rs2478118
gnomAD v2:
10-13650032-C-T
gnomAD v3:
10-13608032-C-T
gnomAD v4:
10-13608032-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.13608032C>T , CM000672.2:g.13608032C>T | GRCh38 |
| NC_000010.10:g.13650032C>T , CM000672.1:g.13650032C>T | GRCh37 |
| NC_000010.9:g.13690038C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378572.8:c.364-2007C>T MANE Select | ENSP00000367835.3:n.364-2007C>T | |
| ENST00000320054.4:c.319-2007C>T | ENSP00000367824.1:n.319-2007C>T | |
| ENST00000378572.7:c.364-2007C>T | ENSP00000367835.3:n.364-2007C>T | |
| ENST00000417658.5:c.346-2007C>T | ENSP00000392142.1:n.346-2007C>T | |
| NM_003675.3:c.364-2007C>T | NP_003666.1:n.364-2007C>T | |
| XM_005252634.2:c.391-2007C>T | XP_005252691.1:n.391-2007C>T | |
| XM_005252636.2:c.391-2007C>T | XP_005252693.1:n.391-2007C>T | |
| XM_011519753.1:c.346-2007C>T | XP_011518055.1:n.346-2007C>T | |
| XM_011519754.1:c.319-2007C>T | XP_011518056.1:n.319-2007C>T | |
| XM_011519754.3:c.319-2007C>T | XP_011518056.1:n.319-2007C>T | |
| XM_017016860.2:c.364-2007C>T | XP_016872349.1:n.364-2007C>T | |
| XR_001747249.1:n.640-2007C>T | ||
| XR_001747250.1:n.640-2007C>T | ||
| XR_001747251.2:n.640-2007C>T | ||
| XR_002957037.1:n.640-2007C>T | ||
| XR_002957038.1:n.640-2007C>T | ||
| NM_003675.4:c.364-2007C>T MANE Select | NP_003666.1:n.364-2007C>T | |
| NM_001395875.1:c.391-2007C>T | NP_001382804.1:n.391-2007C>T | |
| NM_001395876.1:c.346-2007C>T | NP_001382805.1:n.346-2007C>T | |
| NM_001395877.1:c.364-2007C>T | NP_001382806.1:n.364-2007C>T | |
| NM_001395878.1:c.319-2007C>T | NP_001382807.1:n.319-2007C>T | |
| NM_001395879.1:c.364-2007C>T | NP_001382808.1:n.364-2007C>T | |
| NM_001395880.1:c.391-2007C>T | NP_001382809.1:n.391-2007C>T | |
| NM_001395881.1:c.364-2007C>T | NP_001382810.1:n.364-2007C>T | |
| NM_001395882.1:c.205-2007C>T | NP_001382811.1:n.205-2007C>T | |
| NM_001395883.1:c.346-2007C>T | NP_001382812.1:n.346-2007C>T | |
| NM_001395884.1:c.364-2007C>T | NP_001382813.1:n.364-2007C>T | |
| NM_001395885.1:c.136-2007C>T | NP_001382814.1:n.136-2007C>T | |
| NM_001395886.1:c.136-2007C>T | NP_001382815.1:n.136-2007C>T | |
| NM_001395887.1:c.319-2007C>T | NP_001382816.1:n.319-2007C>T | |
| NR_172904.1:n.486-2007C>T | ||
| NR_172905.1:n.486-2007C>T | ||
| NR_172906.1:n.486-2007C>T |