Linked Data
dbSNP Id:
rs559023414
gnomAD v2:
2-150426756-C-A
gnomAD v3:
2-149570242-C-A
gnomAD v4:
2-149570242-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.149570242C>A , CM000664.2:g.149570242C>A | GRCh38 |
| NC_000002.11:g.150426756C>A , CM000664.1:g.150426756C>A | GRCh37 |
| NC_000002.10:g.150135002C>A | NCBI36 |
| NG_009189.1:g.22575G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303319.10:c.697-74G>T MANE Select | ENSP00000301920.5:n.697-74G>T | |
| ENST00000303319.9:c.697-74G>T | ENSP00000301920.5:n.697-74G>T | |
| ENST00000422782.2:c.799-74G>T | ENSP00000408331.2:n.799-74G>T | |
| ENST00000428879.5:c.697-74G>T | ENSP00000389060.1:n.697-74G>T | |
| NM_015702.2:c.697-74G>T | NP_056517.1:n.697-74G>T | |
| NM_015702.3:c.697-74G>T MANE Select | NP_056517.1:n.697-74G>T |