Linked Data
dbSNP Id:
rs1220301233
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.157421721G>A , CM000664.2:g.157421721G>A | GRCh38 |
| NC_000002.11:g.158278233G>A , CM000664.1:g.158278233G>A | GRCh37 |
| NC_000002.10:g.157986479G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264192.8:c.547-3132C>T MANE Select | ENSP00000264192.3:n.547-3132C>T | |
| ENST00000264192.7:c.547-3132C>T | ENSP00000264192.3:n.547-3132C>T | |
| ENST00000418920.5:c.229-3132C>T | ENSP00000394308.1:n.229-3132C>T | |
| ENST00000457793.6:c.*442-3132C>T | ENSP00000407205.2:n.*442-3132C>T | |
| NM_004288.4:c.547-3132C>T | NP_004279.3:n.547-3132C>T | |
| XM_017005386.2:c.229-3132C>T | XP_016860875.1:n.229-3132C>T | |
| NM_004288.5:c.547-3132C>T MANE Select | NP_004279.3:n.547-3132C>T |