Linked Data
dbSNP Id:
rs2188404
gnomAD v2:
7-92943760-T-C
gnomAD v3:
7-93314448-T-C
gnomAD v4:
7-93314448-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.93314448T>C , CM000669.2:g.93314448T>C | GRCh38 |
| NC_000007.13:g.92943760T>C , CM000669.1:g.92943760T>C | GRCh37 |
| NC_000007.12:g.92781696T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000305866.10:c.1855+3176T>C MANE Select | ENSP00000307666.5:n.1855+3176T>C | |
| ENST00000649152.1:c.*1778+3176T>C | ENSP00000496891.1:n.*1778+3176T>C | |
| ENST00000305866.9:c.1855+3176T>C | ENSP00000307666.5:n.1855+3176T>C | |
| ENST00000441602.5:c.*1628+3176T>C | ENSP00000415809.1:n.*1628+3176T>C | |
| ENST00000458707.1:c.1215+3176T>C | ||
| ENST00000471188.5:n.1563+3176T>C | ||
| ENST00000544910.5:c.1765+3176T>C | ENSP00000443104.1:n.1765+3176T>C | |
| NM_001257998.1:c.1765+3176T>C | NP_001244927.1:n.1765+3176T>C | |
| NM_017667.3:c.1855+3176T>C | NP_060137.2:n.1855+3176T>C | |
| XM_011516395.1:c.1288+3176T>C | XP_011514697.1:n.1288+3176T>C | |
| XM_011516396.1:c.1855+3176T>C | XP_011514698.1:n.1855+3176T>C | |
| XR_927488.1:n.1712+3176T>C | ||
| XM_011516395.2:c.1288+3176T>C | XP_011514697.1:n.1288+3176T>C | |
| XM_011516396.3:c.1855+3176T>C | XP_011514698.1:n.1855+3176T>C | |
| XM_017012412.2:c.691+3176T>C | XP_016867901.1:n.691+3176T>C | |
| XM_024446826.1:c.1048+3176T>C | XP_024302594.1:n.1048+3176T>C | |
| XR_001744835.2:n.1689+3176T>C | ||
| NM_017667.4:c.1855+3176T>C MANE Select | NP_060137.2:n.1855+3176T>C | |
| NM_001257998.2:c.1765+3176T>C | NP_001244927.1:n.1765+3176T>C |