Linked Data
dbSNP Id:
rs184894306
ExAC:
2:74372291 G / A
gnomAD v2:
2-74372291-G-A
gnomAD v3:
2-74145164-G-A
gnomAD v4:
2-74145164-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.74145164G>A , CM000664.2:g.74145164G>A | GRCh38 |
| NC_000002.11:g.74372291G>A , CM000664.1:g.74372291G>A | GRCh37 |
| NC_000002.10:g.74225799G>A | NCBI36 |
| NG_031910.1:g.7749C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327428.10:c.169+25C>T MANE Select | ENSP00000331369.5:n.169+25C>T | |
| ENST00000295326.4:c.169+25C>T | ENSP00000295326.4:n.169+25C>T | |
| ENST00000327428.9:c.169+25C>T | ENSP00000331369.5:n.169+25C>T | |
| ENST00000469676.1:n.1192+25C>T | ||
| ENST00000477685.5:n.320+25C>T | ||
| ENST00000484655.1:n.2724+25C>T | ||
| NM_001035505.1:c.169+25C>T | NP_001030582.1:n.169+25C>T | |
| NM_212552.2:c.169+25C>T | NP_997717.2:n.169+25C>T | |
| NM_212552.3:c.169+25C>T MANE Select | NP_997717.2:n.169+25C>T | |
| NM_001035505.2:c.169+25C>T | NP_001030582.1:n.169+25C>T |