Linked Data
dbSNP Id:
rs917675607
gnomAD v2:
2-55870220-C-T
gnomAD v3:
2-55643085-C-T
gnomAD v4:
2-55643085-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.55643085C>T , CM000664.2:g.55643085C>T | GRCh38 |
| NC_000002.11:g.55870220C>T , CM000664.1:g.55870220C>T | GRCh37 |
| NC_000002.10:g.55723724C>T | NCBI36 |
| NG_033012.1:g.55826G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000447944.7:c.2069+73G>A MANE Select | ENSP00000400646.2:n.2069+73G>A | |
| ENST00000260604.8:c.*1611+73G>A | ENSP00000260604.4:n.*1611+73G>A | |
| ENST00000415374.5:c.2069+73G>A | ENSP00000393953.1:n.2069+73G>A | |
| ENST00000447944.6:c.2069+73G>A | ENSP00000400646.2:n.2069+73G>A | |
| ENST00000481066.1:n.1131+73G>A | ||
| NM_033109.4:c.2069+73G>A | NP_149100.2:n.2069+73G>A | |
| XM_005264629.1:c.1829+73G>A | XP_005264686.1:n.1829+73G>A | |
| XM_005264629.2:c.1829+73G>A | XP_005264686.1:n.1829+73G>A | |
| XM_017005172.1:c.1829+73G>A | XP_016860661.1:n.1829+73G>A | |
| NM_033109.5:c.2069+73G>A MANE Select | NP_149100.2:n.2069+73G>A |