Linked Data
ClinVar Variation Id:
1906065
ClinVar RCV Id:
RCV002588954
dbSNP Id:
rs376600303
ExAC:
10:120907376 G / C
gnomAD v2:
10-120907376-G-C
gnomAD v3:
10-119147864-G-C
gnomAD v4:
10-119147864-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.119147864G>C , CM000672.2:g.119147864G>C | GRCh38 |
| NC_000010.10:g.120907376G>C , CM000672.1:g.120907376G>C | GRCh37 |
| NC_000010.9:g.120897366G>C | NCBI36 |
| NG_033895.1:g.22829C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355697.7:c.733-4C>G MANE Select | ENSP00000347924.2:n.733-4C>G | |
| ENST00000355697.6:c.733-4C>G | ENSP00000347924.2:n.733-4C>G | |
| ENST00000369131.8:c.385-4C>G | ENSP00000358127.4:n.385-4C>G | |
| ENST00000461438.5:n.762-4C>G | ||
| ENST00000466218.5:n.682-4C>G | ||
| ENST00000484960.5:n.63-4C>G | ||
| ENST00000490417.6:n.196-4C>G | ||
| NM_213649.1:c.733-4C>G | NP_998814.1:n.733-4C>G | |
| NR_110305.1:n.751-4C>G | ||
| XM_005269525.3:c.706-4C>G | XP_005269582.1:n.706-4C>G | |
| XM_005269526.1:c.385-4C>G | XP_005269583.1:n.385-4C>G | |
| XM_005269527.1:c.385-4C>G | XP_005269584.1:n.385-4C>G | |
| XM_011539282.1:c.385-4C>G | XP_011537584.1:n.385-4C>G | |
| XR_945603.1:n.795-4C>G | ||
| XM_005269525.5:c.706-4C>G | XP_005269582.1:n.706-4C>G | |
| XM_005269526.2:c.385-4C>G | XP_005269583.1:n.385-4C>G | |
| XM_011539282.2:c.385-4C>G | XP_011537584.1:n.385-4C>G | |
| XM_024447793.1:c.385-4C>G | XP_024303561.1:n.385-4C>G | |
| XR_001747022.1:n.984-4C>G | ||
| XR_001747023.1:n.878-4C>G | ||
| XR_945603.3:n.814-4C>G | ||
| NM_213649.2:c.733-4C>G MANE Select | NP_998814.1:n.733-4C>G |