Linked Data
dbSNP Id:
rs1051507473
gnomAD v2:
14-31348196-C-A
gnomAD v3:
14-30878990-C-A
gnomAD v4:
14-30878990-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.30878990C>A , CM000676.2:g.30878990C>A | GRCh38 |
| NC_000014.8:g.31348196C>A , CM000676.1:g.31348196C>A | GRCh37 |
| NC_000014.7:g.30417947C>A | NCBI36 |
| NG_008211.2:g.9456C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216361.9:c.568+46C>A | ENSP00000216361.5:n.568+46C>A | |
| ENST00000396618.9:c.373+46C>A MANE Select | ENSP00000379862.3:n.373+46C>A | |
| ENST00000555117.2:c.373+46C>A | ENSP00000493569.1:n.373+46C>A | |
| ENST00000643575.1:c.373+46C>A | ENSP00000494838.1:n.373+46C>A | |
| ENST00000643697.1:n.618+46C>A | ||
| ENST00000644874.2:c.373+46C>A | ENSP00000496360.1:n.373+46C>A | |
| ENST00000216361.8:c.373+46C>A | ENSP00000216361.4:n.373+46C>A | |
| ENST00000396618.7:c.373+46C>A | ENSP00000379862.3:n.373+46C>A | |
| ENST00000460581.6:c.37+46C>A | ENSP00000451713.1:n.37+46C>A | |
| ENST00000475087.5:c.373+46C>A | ENSP00000451528.1:n.373+46C>A | |
| ENST00000553772.5:c.239+1262C>A | ENSP00000452343.1:n.239+1262C>A | |
| ENST00000553833.5:n.527+46C>A | ||
| ENST00000555881.5:c.83-1462C>A | ENSP00000452569.1:n.83-1462C>A | |
| ENST00000556908.5:c.325+46C>A | ENSP00000452541.1:n.325+46C>A | |
| ENST00000557065.1:c.156-433C>A | ENSP00000451629.1:n.156-433C>A | |
| NM_001135058.1:c.373+46C>A | NP_001128530.1:n.373+46C>A | |
| NM_004086.2:c.373+46C>A | NP_004077.1:n.373+46C>A | |
| NR_038356.1:n.1618-2438G>T | ||
| XM_011536539.1:c.373+46C>A | XP_011534841.1:n.373+46C>A | |
| NM_001347720.1:c.568+46C>A | NP_001334649.1:n.568+46C>A | |
| XM_017021071.1:c.568+46C>A | XP_016876560.1:n.568+46C>A | |
| XM_024449506.1:c.373+46C>A | XP_024305274.1:n.373+46C>A | |
| NM_004086.3:c.373+46C>A MANE Select | NP_004077.1:n.373+46C>A | |
| NM_001135058.2:c.373+46C>A | NP_001128530.1:n.373+46C>A | |
| NM_001347720.2:c.568+46C>A | NP_001334649.1:n.568+46C>A |