Linked Data
ClinVar Variation Id:
256358
ClinVar RCV Id:
RCV000709991
dbSNP Id:
rs761197472
gnomAD v4:
5-74689474-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.74689474G>C , CM000667.2:g.74689474G>C | GRCh38 |
| NC_000005.9:g.73985299G>C , CM000667.1:g.73985299G>C | GRCh37 |
| NC_000005.8:g.74021055G>C | NCBI36 |
| NG_009770.1:g.9331G>C | |
| NG_009770.2:g.54452G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261416.12:c.445+1G>C MANE Select | ENSP00000261416.7:n.445+1G>C | |
| ENST00000261416.11:c.445+1G>C | ENSP00000261416.7:n.445+1G>C | |
| ENST00000511181.5:c.-231+1G>C | ENSP00000426285.1:n.-231+1G>C | |
| ENST00000513079.5:n.510+1G>C | ||
| ENST00000515528.1:n.501G>C | ||
| NM_000521.3:c.445+1G>C | NP_000512.1:n.445+1G>C | |
| NM_001292004.1:c.-231+1G>C | NP_001278933.1:n.-231+1G>C | |
| NM_000521.4:c.445+1G>C MANE Select | NP_000512.2:n.445+1G>C | |
| NM_001292004.2:c.-231+1G>C | NP_001278933.1:n.-231+1G>C |