Linked Data
ClinVar Variation Id:
204294
dbSNP Id:
rs875989819
gnomAD v4:
6-75113601-C-T
PubMed:
PMID:24334604
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.75113601C>T , CM000668.2:g.75113601C>T | GRCh38 |
| NC_000006.11:g.75823317C>T , CM000668.1:g.75823317C>T | GRCh37 |
| NC_000006.10:g.75880037C>T | NCBI36 |
| NG_042181.1:g.97307G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322507.13:c.7840+1G>A MANE Select | ENSP00000325146.8:n.7840+1G>A | |
| ENST00000322507.12:c.7840+1G>A | ENSP00000325146.8:n.7840+1G>A | |
| ENST00000345356.10:c.4348+1G>A | ENSP00000305147.9:n.4348+1G>A | |
| ENST00000416123.6:c.7840+1G>A | ENSP00000412864.2:n.7840+1G>A | |
| ENST00000425443.6:c.754+1G>A | ENSP00000399812.2:n.754+1G>A | |
| ENST00000483888.6:c.7840+1G>A | ENSP00000421216.1:n.7840+1G>A | |
| ENST00000493109.2:c.502+1G>A | ENSP00000423423.1:n.502+1G>A | |
| ENST00000615798.4:c.4273+1G>A | ENSP00000483232.1:n.4273+1G>A | |
| NM_004370.5:c.7840+1G>A | NP_004361.3:n.7840+1G>A | |
| NM_080645.2:c.4348+1G>A | NP_542376.2:n.4348+1G>A | |
| XM_011535434.1:c.7840+1G>A | XP_011533736.1:n.7840+1G>A | |
| XM_011535435.1:c.7567+1G>A | XP_011533737.1:n.7567+1G>A | |
| XM_011535436.1:c.4348+1G>A | XP_011533738.1:n.4348+1G>A | |
| XM_011535436.2:c.4348+1G>A | XP_011533738.1:n.4348+1G>A | |
| XM_017010252.2:c.7804+1G>A | XP_016865741.1:n.7804+1G>A | |
| NM_004370.6:c.7840+1G>A MANE Select | NP_004361.3:n.7840+1G>A | |
| NM_080645.3:c.4348+1G>A | NP_542376.2:n.4348+1G>A |