Linked Data
dbSNP Id:
rs13177918
gnomAD v2:
5-149825870-C-T
gnomAD v3:
5-150446307-C-T
gnomAD v4:
5-150446307-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.150446307C>T , CM000667.2:g.150446307C>T | GRCh38 |
| NC_000005.9:g.149825870C>T , CM000667.1:g.149825870C>T | GRCh37 |
| NC_000005.8:g.149806063C>T | NCBI36 |
| NG_042287.1:g.8450G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000312037.6:c.311+495G>A | ENSP00000311028.5:n.311+495G>A | |
| ENST00000401695.8:c.311+495G>A | ENSP00000385958.3:n.311+495G>A | |
| ENST00000407193.7:c.311+495G>A MANE Select | ENSP00000385425.1:n.311+495G>A | |
| ENST00000642507.1:c.311+495G>A | ENSP00000496665.1:n.311+495G>A | |
| ENST00000312037.5:c.311+495G>A | ENSP00000311028.5:n.311+495G>A | |
| ENST00000401695.7:c.311+495G>A | ENSP00000385958.3:n.311+495G>A | |
| ENST00000407193.5:c.311+495G>A | ENSP00000385425.1:n.311+495G>A | |
| ENST00000518139.5:c.311+495G>A | ENSP00000429856.1:n.311+495G>A | |
| ENST00000519690.1:n.2926+495G>A | ||
| ENST00000519855.1:c.136+495G>A | ||
| ENST00000521466.5:c.311+495G>A | ENSP00000428509.1:n.311+495G>A | |
| NM_001025070.1:c.311+495G>A | NP_001020241.1:n.311+495G>A | |
| NM_001025071.1:c.311+495G>A | NP_001020242.1:n.311+495G>A | |
| NM_005617.3:c.311+495G>A | NP_005608.1:n.311+495G>A | |
| NM_005617.4:c.311+495G>A MANE Select | NP_005608.1:n.311+495G>A | |
| NM_001025070.2:c.311+495G>A | NP_001020241.1:n.311+495G>A | |
| NM_001025071.2:c.311+495G>A | NP_001020242.1:n.311+495G>A |