Linked Data
ClinVar Variation Id:
431763
ClinVar RCV Id:
RCV000497260
dbSNP Id:
rs1135402918
PubMed:
PMID:28657829
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.207324558G>A , CM000663.2:g.207324558G>A | GRCh38 |
| NC_000001.10:g.207497903G>A , CM000663.1:g.207497903G>A | GRCh37 |
| NC_000001.9:g.205564526G>A | NCBI36 |
| NG_007465.1:g.8087G>A , LRG_127:g.8087G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695822.1:n.534-1G>A | ||
| ENST00000695823.1:c.287-1G>A | ENSP00000512200.1:n.287-1G>A | |
| ENST00000695824.1:c.287-1G>A | ENSP00000512201.1:n.287-1G>A | |
| ENST00000695825.1:c.287-1G>A | ENSP00000512202.1:n.287-1G>A | |
| ENST00000695826.1:c.287-1G>A | ENSP00000512203.1:n.287-1G>A | |
| ENST00000695827.1:n.515-1G>A | ||
| ENST00000695828.1:c.287-1G>A | ENSP00000512204.1:n.287-1G>A | |
| ENST00000695829.1:n.392-1G>A | ||
| ENST00000695830.1:n.105-1G>A | ||
| ENST00000367064.9:c.287-1G>A MANE Select | ENSP00000356031.4:n.287-1G>A | |
| ENST00000391921.9:c.287-1064G>A | ENSP00000375788.4:n.287-1064G>A | |
| ENST00000644836.1:c.287-1G>A | ENSP00000495518.1:n.287-1G>A | |
| ENST00000645323.1:c.287-1G>A | ENSP00000496251.1:n.287-1G>A | |
| ENST00000314754.12:c.287-1G>A | ENSP00000316333.8:n.287-1G>A | |
| ENST00000343420.6:c.316-1G>A | ||
| ENST00000367063.6:c.287-1G>A | ENSP00000356030.2:n.287-1G>A | |
| ENST00000367064.7:c.287-1G>A | ENSP00000356031.3:n.287-1G>A | |
| ENST00000367067.8:c.287-1G>A | ENSP00000356034.5:n.287-1G>A | |
| ENST00000391921.8:c.287-1064G>A | ENSP00000375788.4:n.287-1064G>A | |
| ENST00000488171.5:n.366-1G>A | ||
| NM_000574.4:c.287-1G>A | NP_000565.1:n.287-1G>A | |
| NM_001114752.2:c.287-1G>A | NP_001108224.1:n.287-1G>A | |
| NM_001300902.1:c.287-1G>A | NP_001287831.1:n.287-1G>A | |
| NM_001300903.1:c.287-1G>A | NP_001287832.1:n.287-1G>A | |
| NM_001300904.1:c.287-1G>A | NP_001287833.1:n.287-1G>A | |
| NR_125349.1:n.581-1G>A | ||
| XM_017000467.2:c.287-1G>A | XP_016855956.1:n.287-1G>A | |
| NM_000574.5:c.287-1G>A MANE Select | NP_000565.1:n.287-1G>A | |
| NM_001114752.3:c.287-1G>A | NP_001108224.1:n.287-1G>A | |
| NM_001300902.2:c.287-1G>A | NP_001287831.1:n.287-1G>A | |
| NM_001300903.2:c.287-1G>A | NP_001287832.1:n.287-1G>A | |
| NM_001300904.2:c.287-1G>A | NP_001287833.1:n.287-1G>A | |
| NR_125349.2:n.375-1G>A |