Linked Data
ClinVar Variation Id:
281981
dbSNP Id:
rs202109231
ExAC:
14:31349945 C / T
gnomAD v2:
14-31349945-C-T
gnomAD v3:
14-30880739-C-T
gnomAD v4:
14-30880739-C-T
ERepo:
CA7143097/MONDO:0019497/005
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.30880739C>T , CM000676.2:g.30880739C>T | GRCh38 |
| NC_000014.8:g.31349945C>T , CM000676.1:g.31349945C>T | GRCh37 |
| NC_000014.7:g.30419696C>T | NCBI36 |
| NG_008211.2:g.11205C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216361.9:c.824+5C>T | ENSP00000216361.5:n.824+5C>T | |
| ENST00000396618.9:c.629+5C>T MANE Select | ENSP00000379862.3:n.629+5C>T | |
| ENST00000555117.2:c.629+5C>T | ENSP00000493569.1:n.629+5C>T | |
| ENST00000643575.1:c.629+5C>T | ENSP00000494838.1:n.629+5C>T | |
| ENST00000643697.1:n.874+5C>T | ||
| ENST00000644874.2:c.629+5C>T | ENSP00000496360.1:n.629+5C>T | |
| ENST00000216361.8:c.629+5C>T | ENSP00000216361.4:n.629+5C>T | |
| ENST00000396618.7:c.629+5C>T | ENSP00000379862.3:n.629+5C>T | |
| ENST00000460581.6:c.293+5C>T | ENSP00000451713.1:n.293+5C>T | |
| ENST00000468826.2:c.148+5C>T | ||
| ENST00000475087.5:c.629+5C>T | ENSP00000451528.1:n.629+5C>T | |
| ENST00000553772.5:c.*189+5C>T | ENSP00000452343.1:n.*189+5C>T | |
| ENST00000555881.5:c.275+5C>T | ENSP00000452569.1:n.275+5C>T | |
| ENST00000557065.1:c.411+5C>T | ENSP00000451629.1:n.411+5C>T | |
| NM_001135058.1:c.629+5C>T | NP_001128530.1:n.629+5C>T | |
| NM_004086.2:c.629+5C>T | NP_004077.1:n.629+5C>T | |
| NR_038356.1:n.1617+3771G>A | ||
| XM_011536539.1:c.629+5C>T | XP_011534841.1:n.629+5C>T | |
| NM_001347720.1:c.824+5C>T | NP_001334649.1:n.824+5C>T | |
| XM_017021071.1:c.824+5C>T | XP_016876560.1:n.824+5C>T | |
| XM_024449506.1:c.629+5C>T | XP_024305274.1:n.629+5C>T | |
| NM_004086.3:c.629+5C>T MANE Select | NP_004077.1:n.629+5C>T | |
| NM_001135058.2:c.629+5C>T | NP_001128530.1:n.629+5C>T | |
| NM_001347720.2:c.824+5C>T | NP_001334649.1:n.824+5C>T |