Linked Data
dbSNP Id:
rs994814483
gnomAD v2:
2-55461343-C-T
gnomAD v3:
2-55234207-C-T
gnomAD v4:
2-55234207-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.55234207C>T , CM000664.2:g.55234207C>T | GRCh38 |
| NC_000002.11:g.55461343C>T , CM000664.1:g.55461343C>T | GRCh37 |
| NC_000002.10:g.55314847C>T | NCBI36 |
| NG_017017.1:g.7279C>T | |
| NG_033063.1:g.3357G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272317.11:c.189+3C>T MANE Select | ENSP00000272317.6:n.189+3C>T | |
| ENST00000272317.10:c.189+3C>T | ENSP00000272317.6:n.189+3C>T | |
| ENST00000402285.7:c.189+3C>T | ENSP00000383981.3:n.189+3C>T | |
| ENST00000404735.1:c.189+3C>T | ENSP00000385659.1:n.189+3C>T | |
| ENST00000449323.5:c.189+3C>T | ENSP00000408482.1:n.189+3C>T | |
| ENST00000468810.1:n.150C>T | ||
| ENST00000478196.6:n.226+3C>T | ||
| ENST00000495843.1:n.222C>T | ||
| NM_001135592.2:c.189+3C>T | NP_001129064.1:n.189+3C>T | |
| NM_001177413.1:c.189+3C>T | NP_001170884.1:n.189+3C>T | |
| NM_002954.5:c.189+3C>T | NP_002945.1:n.189+3C>T | |
| NM_002954.6:c.189+3C>T MANE Select | NP_002945.1:n.189+3C>T |