Linked Data
ClinVar Variation Id:
1541388
ClinVar RCV Id:
RCV002172479
dbSNP Id:
rs777448244
ExAC:
6:35467949 T / C
gnomAD v2:
6-35467949-T-C
gnomAD v3:
6-35500172-T-C
gnomAD v4:
6-35500172-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.35500172T>C , CM000668.2:g.35500172T>C | GRCh38 |
| NC_000006.11:g.35467949T>C , CM000668.1:g.35467949T>C | GRCh37 |
| NC_000006.10:g.35575927T>C | NCBI36 |
| NG_009077.1:g.17699A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000229771.11:c.1324-20A>G MANE Select | ENSP00000229771.6:n.1324-20A>G | |
| ENST00000229771.10:c.1324-20A>G | ENSP00000229771.6:n.1324-20A>G | |
| ENST00000322263.8:c.1165-20A>G | ENSP00000319414.4:n.1165-20A>G | |
| ENST00000495781.1:n.500-20A>G | ||
| ENST00000614066.4:c.1318-20A>G | ENSP00000477534.1:n.1318-20A>G | |
| NM_001289395.1:c.1165-20A>G | NP_001276324.1:n.1165-20A>G | |
| NM_003322.4:c.1324-20A>G | NP_003313.3:n.1324-20A>G | |
| NM_003322.5:c.1324-20A>G | NP_003313.3:n.1324-20A>G | |
| NM_003322.6:c.1324-20A>G MANE Select | NP_003313.3:n.1324-20A>G | |
| NM_001289395.2:c.1165-20A>G | NP_001276324.1:n.1165-20A>G |