Linked Data
dbSNP Id:
rs1643649
gnomAD v2:
5-79939449-T-C
gnomAD v3:
5-80643630-T-C
gnomAD v4:
5-80643630-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.80643630T>C , CM000667.2:g.80643630T>C | GRCh38 |
| NC_000005.9:g.79939449T>C , CM000667.1:g.79939449T>C | GRCh37 |
| NC_000005.8:g.79975205T>C | NCBI36 |
| NG_023304.1:g.16352A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000439211.7:c.243-5621A>G MANE Select | ENSP00000396308.2:n.243-5621A>G | |
| ENST00000439211.6:c.243-5621A>G | ENSP00000396308.2:n.243-5621A>G | |
| ENST00000504396.1:c.87-5621A>G | ENSP00000421334.1:n.87-5621A>G | |
| ENST00000505337.5:c.243-5621A>G | ENSP00000426474.1:n.243-5621A>G | |
| ENST00000508282.1:n.201-5621A>G | ||
| ENST00000511032.5:c.243-5621A>G | ENSP00000422732.1:n.243-5621A>G | |
| ENST00000513048.5:n.250+5759A>G | ||
| NM_000791.3:c.243-5621A>G | NP_000782.1:n.243-5621A>G | |
| NM_001290354.1:c.87-5621A>G | NP_001277283.1:n.87-5621A>G | |
| NM_001290357.1:c.243-5621A>G | NP_001277286.1:n.243-5621A>G | |
| NR_110936.1:n.684+5759A>G | ||
| NM_000791.4:c.243-5621A>G MANE Select | NP_000782.1:n.243-5621A>G | |
| NM_001290354.2:c.87-5621A>G | NP_001277283.1:n.87-5621A>G | |
| NM_001290357.2:c.243-5621A>G | NP_001277286.1:n.243-5621A>G | |
| NR_110936.2:n.686+5759A>G |