Linked Data
ClinVar Variation Id:
2259287
ClinVar RCV Id:
RCV004121295
dbSNP Id:
rs758607342
ExAC:
1:159683494 C / T
gnomAD v2:
1-159683494-C-T
gnomAD v3:
1-159713704-C-T
gnomAD v4:
1-159713704-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.159713704C>T , CM000663.2:g.159713704C>T | GRCh38 |
| NC_000001.10:g.159683494C>T , CM000663.1:g.159683494C>T | GRCh37 |
| NC_000001.9:g.157950118C>T | NCBI36 |
| NG_013007.1:g.5886G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255030.9:c.496G>A MANE Select | ENSP00000255030.5:p.Gly166Arg | |
| ENST00000368110.1:c.194-64G>A | ENSP00000357091.1:n.194-64G>A | |
| ENST00000368111.5:c.194-64G>A | ENSP00000357092.1:n.194-64G>A | |
| ENST00000368112.5:c.198-101G>A | ENSP00000357093.1:n.198-101G>A | |
| ENST00000437342.1:c.-39G>A | ENSP00000402788.1:n.-39G>A | |
| ENST00000473196.1:n.64G>A | ||
| ENST00000489317.1:n.74+303G>A | ||
| NM_000567.2:c.496G>A | NP_000558.2:p.Gly166Arg | |
| XM_011509207.1:c.496G>A | XP_011507509.1:p.Gly166Arg | |
| NM_001329057.1:c.496G>A | NP_001315986.1:p.Gly166Arg | |
| NM_001329058.1:c.198-101G>A | NP_001315987.1:n.198-101G>A | |
| NM_000567.3:c.496G>A MANE Select | NP_000558.2:p.Gly166Arg | |
| NM_001329057.2:c.496G>A | NP_001315986.1:p.Gly166Arg | |
| NM_001329058.2:c.198-101G>A | NP_001315987.1:n.198-101G>A | |
| NM_001382703.1:c.194-64G>A | NP_001369632.1:n.194-64G>A |