Linked Data
dbSNP Id:
rs996556091
gnomAD v2:
8-145744430-G-A
gnomAD v3:
8-144519046-G-A
gnomAD v4:
8-144519046-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.144519046G>A , CM000670.2:g.144519046G>A | GRCh38 |
| NC_000008.10:g.145744430G>A , CM000670.1:g.145744430G>A | GRCh37 |
| NC_000008.9:g.145715238G>A | NCBI36 |
| NG_016430.1:g.3781C>T | |
| NG_033083.1:g.6082G>A | |
| NG_016430.2:g.3781C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000292524.6:c.-111-569G>A MANE Select | ENSP00000292524.1:n.-111-569G>A | |
| ENST00000292524.5:c.-111-569G>A | ENSP00000292524.1:n.-111-569G>A | |
| ENST00000525766.1:c.-112+231G>A | ENSP00000434738.1:n.-112+231G>A | |
| ENST00000527730.1:c.-25-655G>A | ENSP00000436452.1:n.-25-655G>A | |
| ENST00000529022.5:c.-112+231G>A | ENSP00000434768.1:n.-112+231G>A | |
| ENST00000530854.1:c.-26+231G>A | ENSP00000435985.1:n.-26+231G>A | |
| NM_001272036.1:c.-112+231G>A | NP_001258965.1:n.-112+231G>A | |
| NM_014665.3:c.-111-569G>A | NP_055480.1:n.-111-569G>A | |
| XM_005272358.3:c.-25-655G>A | XP_005272415.1:n.-25-655G>A | |
| XM_005272359.3:c.-26+231G>A | XP_005272416.1:n.-26+231G>A | |
| XM_005272360.3:c.-9-788G>A | XP_005272417.1:n.-9-788G>A | |
| XM_005272361.2:c.-375-655G>A | XP_005272418.1:n.-375-655G>A | |
| XM_011517387.1:c.-552-128G>A | XP_011515689.1:n.-552-128G>A | |
| XM_011517388.1:c.-10+231G>A | XP_011515690.1:n.-10+231G>A | |
| XR_928369.1:n.121+231G>A | ||
| XR_928370.1:n.121+231G>A | ||
| XR_928371.1:n.121+231G>A | ||
| XM_005272358.5:c.-25-655G>A | XP_005272415.1:n.-25-655G>A | |
| XM_005272359.5:c.-26+231G>A | XP_005272416.1:n.-26+231G>A | |
| XM_005272360.5:c.-9-788G>A | XP_005272417.1:n.-9-788G>A | |
| XM_017014005.2:c.-10+231G>A | XP_016869494.1:n.-10+231G>A | |
| XM_024447336.1:c.-112+231G>A | XP_024303104.1:n.-112+231G>A | |
| XM_024447337.1:c.-10+231G>A | XP_024303105.1:n.-10+231G>A | |
| XM_024447338.1:c.-461-569G>A | XP_024303106.1:n.-461-569G>A | |
| XM_024447339.1:c.-375-655G>A | XP_024303107.1:n.-375-655G>A | |
| XM_024447340.1:c.-243+231G>A | XP_024303108.1:n.-243+231G>A | |
| XM_024447341.1:c.-242-788G>A | XP_024303109.1:n.-242-788G>A | |
| NM_014665.4:c.-111-569G>A MANE Select | NP_055480.1:n.-111-569G>A | |
| NM_001272036.2:c.-112+231G>A | NP_001258965.1:n.-112+231G>A |