Linked Data
dbSNP Id:
rs763387820
ExAC:
13:31891834 C / T
gnomAD v2:
13-31891834-C-T
gnomAD v4:
13-31317697-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.31317697C>T , CM000675.2:g.31317697C>T | GRCh38 |
| NC_000013.10:g.31891834C>T , CM000675.1:g.31891834C>T | GRCh37 |
| NC_000013.9:g.30789834C>T | NCBI36 |
| NG_011732.1:g.122723C>T | |
| NG_011732.2:g.122723C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000343307.5:c.1184+12C>T MANE Select | ENSP00000343002.4:n.1184+12C>T | |
| ENST00000343307.4:c.1184+12C>T | ENSP00000343002.4:n.1184+12C>T | |
| NM_194318.3:c.1184+12C>T | NP_919299.3:n.1184+12C>T | |
| XM_006719768.2:c.1127+12C>T | XP_006719831.1:n.1127+12C>T | |
| XM_011534936.1:c.1065-6054C>T | XP_011533238.1:n.1065-6054C>T | |
| XM_011534937.1:c.1064+12C>T | XP_011533239.1:n.1064+12C>T | |
| XM_011534938.1:c.1037+12C>T | XP_011533240.1:n.1037+12C>T | |
| XM_006719768.3:c.1127+12C>T | XP_006719831.1:n.1127+12C>T | |
| XM_011534938.2:c.1037+12C>T | XP_011533240.1:n.1037+12C>T | |
| XM_017020395.1:c.1037+12C>T | XP_016875884.1:n.1037+12C>T | |
| NM_194318.4:c.1184+12C>T MANE Select | NP_919299.3:n.1184+12C>T |