Linked Data
dbSNP Id:
rs749875300
ExAC:
2:71351311 C / T
gnomAD v2:
2-71351311-C-T
gnomAD v3:
2-71124181-C-T
gnomAD v4:
2-71124181-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.71124181C>T , CM000664.2:g.71124181C>T | GRCh38 |
| NC_000002.11:g.71351311C>T , CM000664.1:g.71351311C>T | GRCh37 |
| NC_000002.10:g.71204819C>T | NCBI36 |
| NG_008977.1:g.11084G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000244217.6:c.378+25G>A MANE Select | ENSP00000244217.5:n.378+25G>A | |
| ENST00000244217.5:c.378+25G>A | ENSP00000244217.5:n.378+25G>A | |
| ENST00000413592.5:c.84+187G>A | ENSP00000391140.1:n.84+187G>A | |
| NM_032601.3:c.378+25G>A | NP_115990.3:n.378+25G>A | |
| XM_005264613.2:c.216+187G>A | XP_005264670.1:n.216+187G>A | |
| XR_939729.1:n.447+25G>A | ||
| XR_939729.2:n.447+25G>A | ||
| NM_032601.4:c.378+25G>A MANE Select | NP_115990.3:n.378+25G>A |