Linked Data
ClinVar Variation Id:
755109
ClinVar RCV Id:
RCV000932485
dbSNP Id:
rs529909202
gnomAD v2:
10-104594968-T-G
gnomAD v4:
10-102835211-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.102835211T>G , CM000672.2:g.102835211T>G | GRCh38 |
| NC_000010.10:g.104594968T>G , CM000672.1:g.104594968T>G | GRCh37 |
| NC_000010.9:g.104584958T>G | NCBI36 |
| NG_007955.1:g.7323A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369887.4:c.436+43A>C MANE Select | ENSP00000358903.3:n.436+43A>C | |
| ENST00000638190.1:c.436+43A>C | ENSP00000492539.1:n.436+43A>C | |
| ENST00000638272.1:c.297+1854A>C | ENSP00000491508.1:n.297+1854A>C | |
| ENST00000638971.1:c.436+43A>C | ENSP00000492313.1:n.436+43A>C | |
| ENST00000639393.1:c.436+43A>C | ENSP00000492651.1:n.436+43A>C | |
| ENST00000640633.1:n.198+43A>C | ||
| ENST00000369887.3:c.436+43A>C | ENSP00000358903.3:n.436+43A>C | |
| ENST00000489268.1:n.690+43A>C | ||
| NM_000102.3:c.436+43A>C | NP_000093.1:n.436+43A>C | |
| NM_000102.4:c.436+43A>C MANE Select | NP_000093.1:n.436+43A>C |