Linked Data
dbSNP Id:
rs749264926
ExAC:
5:79361305 G / T
gnomAD v2:
5-79361305-G-T
gnomAD v4:
5-80065482-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.80065482G>T , CM000667.2:g.80065482G>T | GRCh38 |
| NC_000005.9:g.79361305G>T , CM000667.1:g.79361305G>T | GRCh37 |
| NC_000005.8:g.79397061G>T | NCBI36 |
| NG_047084.1:g.79172G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000350881.6:c.1194+5G>T MANE Select | ENSP00000339730.2:n.1194+5G>T | |
| ENST00000511733.1:c.921+5G>T | ENSP00000422298.1:n.921+5G>T | |
| NM_001306212.1:c.921+5G>T | NP_001293141.1:n.921+5G>T | |
| NM_001306213.1:c.921+5G>T | NP_001293142.1:n.921+5G>T | |
| NM_001306214.1:c.921+5G>T | NP_001293143.1:n.921+5G>T | |
| NM_003248.4:c.1194+5G>T | NP_003239.2:n.1194+5G>T | |
| NM_003248.5:c.1194+5G>T | NP_003239.2:n.1194+5G>T | |
| XM_017009798.2:c.1194+5G>T | XP_016865287.1:n.1194+5G>T | |
| XM_017009799.2:c.1194+5G>T | XP_016865288.1:n.1194+5G>T | |
| XR_002956176.1:n.1385+5G>T | ||
| NM_003248.6:c.1194+5G>T MANE Select | NP_003239.2:n.1194+5G>T | |
| NM_001306212.2:c.921+5G>T | NP_001293141.1:n.921+5G>T | |
| NM_001306213.2:c.921+5G>T | NP_001293142.1:n.921+5G>T | |
| NM_001306214.2:c.921+5G>T | NP_001293143.1:n.921+5G>T |