Linked Data
dbSNP Id:
rs531609464
gnomAD v2:
4-109046867-G-A
gnomAD v3:
4-108125711-G-A
gnomAD v4:
4-108125711-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.108125711G>A , CM000666.2:g.108125711G>A | GRCh38 |
| NC_000004.11:g.109046867G>A , CM000666.1:g.109046867G>A | GRCh37 |
| NC_000004.10:g.109266316G>A | NCBI36 |
| NG_015798.1:g.48246C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265165.6:c.415-36454C>T MANE Select | ENSP00000265165.1:n.415-36454C>T | |
| ENST00000265165.5:c.415-36454C>T | ENSP00000265165.1:n.415-36454C>T | |
| ENST00000379951.6:c.415-36454C>T | ENSP00000369284.2:n.415-36454C>T | |
| ENST00000438313.6:c.415-36454C>T | ENSP00000406176.2:n.415-36454C>T | |
| ENST00000504775.5:n.242-36454C>T | ||
| ENST00000504950.5:c.210+37857C>T | ENSP00000427459.1:n.210+37857C>T | |
| ENST00000505293.1:n.341-36454C>T | ||
| ENST00000506680.5:c.415-36454C>T | ENSP00000422334.1:n.415-36454C>T | |
| ENST00000509428.5:n.234-36454C>T | ||
| ENST00000510135.5:n.294-36454C>T | ||
| ENST00000510624.5:c.211-36454C>T | ENSP00000422840.1:n.211-36454C>T | |
| ENST00000510717.5:n.296-36454C>T | ||
| ENST00000512172.1:c.211-36454C>T | ENSP00000427365.1:n.211-36454C>T | |
| ENST00000515500.5:c.211-36454C>T | ENSP00000422801.1:n.211-36454C>T | |
| NM_001130713.2:c.415-36454C>T | NP_001124185.1:n.415-36454C>T | |
| NM_001130714.2:c.415-36454C>T | NP_001124186.1:n.415-36454C>T | |
| NM_001166119.1:c.211-36454C>T | NP_001159591.1:n.211-36454C>T | |
| NM_016269.4:c.415-36454C>T | NP_057353.1:n.415-36454C>T | |
| XM_005263046.2:c.415-36454C>T | XP_005263103.1:n.415-36454C>T | |
| XM_005263047.1:c.211-36454C>T | XP_005263104.1:n.211-36454C>T | |
| XM_005263048.1:c.211-36454C>T | XP_005263105.1:n.211-36454C>T | |
| XM_006714233.1:c.70-36454C>T | XP_006714296.1:n.70-36454C>T | |
| XM_005263046.3:c.415-36454C>T | XP_005263103.1:n.415-36454C>T | |
| NM_016269.5:c.415-36454C>T MANE Select | NP_057353.1:n.415-36454C>T | |
| NM_001130713.3:c.415-36454C>T | NP_001124185.1:n.415-36454C>T | |
| NM_001130714.3:c.415-36454C>T | NP_001124186.1:n.415-36454C>T | |
| NM_001166119.2:c.211-36454C>T | NP_001159591.1:n.211-36454C>T |