Linked Data
dbSNP Id:
rs402710
ExAC:
5:1320722 C / T
gnomAD v2:
5-1320722-C-T
gnomAD v3:
5-1320607-C-T
gnomAD v4:
5-1320607-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1320607C>T , CM000667.2:g.1320607C>T | GRCh38 |
| NC_000005.9:g.1320722C>T , CM000667.1:g.1320722C>T | GRCh37 |
| NC_000005.8:g.1373722C>T | NCBI36 |
| NG_046903.1:g.29459G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000320895.10:c.1532+9G>A MANE Select | ENSP00000313854.5:n.1532+9G>A | |
| ENST00000320895.9:c.1532+9G>A | ENSP00000313854.5:n.1532+9G>A | |
| ENST00000503042.5:n.2954+9G>A | ||
| ENST00000503534.5:n.463+9G>A | ||
| ENST00000506641.5:n.693+9G>A | ||
| ENST00000507807.3:c.1025+9G>A | ENSP00000423321.1:n.1025+9G>A | |
| ENST00000511268.6:n.305G>A | ||
| ENST00000515719.5:n.227+9G>A | ||
| ENST00000630539.1:c.1025+9G>A | ENSP00000485923.1:n.1025+9G>A | |
| NM_030782.3:c.1532+9G>A | NP_110409.2:n.1532+9G>A | |
| NM_030782.4:c.1532+9G>A | NP_110409.2:n.1532+9G>A | |
| XM_011514144.1:c.1529+9G>A | XP_011512446.1:n.1529+9G>A | |
| XM_011514144.2:c.1529+9G>A | XP_011512446.1:n.1529+9G>A | |
| XM_024446221.1:c.1616+9G>A | XP_024301989.1:n.1616+9G>A | |
| XM_024446222.1:c.998+9G>A | XP_024301990.1:n.998+9G>A | |
| XR_002956182.1:n.2478+9G>A | ||
| XR_002956183.1:n.2656+9G>A | ||
| NM_030782.5:c.1532+9G>A MANE Select | NP_110409.2:n.1532+9G>A |