Linked Data
dbSNP Id:
rs1386478
gnomAD v2:
3-113680951-A-G
gnomAD v3:
3-113962104-A-G
gnomAD v4:
3-113962104-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.113962104A>G , CM000665.2:g.113962104A>G | GRCh38 |
| NC_000003.11:g.113680951A>G , CM000665.1:g.113680951A>G | GRCh37 |
| NC_000003.10:g.115163641A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000638807.2:c.*3474A>G MANE Select | ENSP00000492287.2:n.*3474A>G | |
| ENST00000638807.1:c.4185A>G | ENSP00000492287.1:n.4185A>G | |
| ENST00000330212.7:c.*1371A>G | ENSP00000330485.3:n.*1371A>G | |
| ENST00000478793.1:c.*1110A>G | ENSP00000420251.1:n.*1110A>G | |
| ENST00000488129.1:n.4020A>G | ||
| ENST00000496083.1:c.86-3066A>G | ENSP00000417579.1:n.86-3066A>G | |
| NM_173570.3:c.*1371A>G | NP_775841.2:n.*1371A>G | |
| XM_005247265.1:c.*3474A>G | XP_005247322.1:n.*3474A>G | |
| XM_005247266.1:c.*3474A>G | XP_005247323.1:n.*3474A>G | |
| XM_005247269.1:c.*1371A>G | XP_005247326.1:n.*1371A>G | |
| XM_005247270.2:c.*3474A>G | XP_005247327.1:n.*3474A>G | |
| XM_006713561.1:c.*3474A>G | XP_006713624.1:n.*3474A>G | |
| XM_006713562.2:c.1216+3566A>G | XP_006713625.1:n.1216+3566A>G | |
| XM_011512618.1:c.*3474A>G | XP_011510920.1:n.*3474A>G | |
| XM_011512619.1:c.*2561A>G | XP_011510921.1:n.*2561A>G | |
| XM_011512620.1:c.*1042A>G | XP_011510922.1:n.*1042A>G | |
| XR_241479.2:n.1459+3566A>G | ||
| XR_924118.1:n.1459+3566A>G | ||
| XR_924119.1:n.2924A>G | ||
| XR_924120.1:n.2592A>G | ||
| XR_924121.1:n.1539+2504A>G | ||
| NM_001320466.1:c.*3474A>G | NP_001307395.1:n.*3474A>G | |
| NM_001320467.1:c.*3474A>G | NP_001307396.1:n.*3474A>G | |
| NM_001320468.1:c.*3474A>G | NP_001307397.1:n.*3474A>G | |
| NM_001363952.1:c.*2561A>G | NP_001350881.1:n.*2561A>G | |
| NM_173570.4:c.*1371A>G | NP_775841.2:n.*1371A>G | |
| NR_135271.1:n.2756A>G | ||
| XM_005247270.3:c.*3474A>G | XP_005247327.1:n.*3474A>G | |
| XM_006713562.3:c.1216+3566A>G | XP_006713625.1:n.1216+3566A>G | |
| XM_011512618.2:c.*3474A>G | XP_011510920.1:n.*3474A>G | |
| XM_017006084.1:c.*3474A>G | XP_016861573.1:n.*3474A>G | |
| XM_017006086.1:c.*1371A>G | XP_016861575.1:n.*1371A>G | |
| XM_017006087.1:c.*2561A>G | XP_016861576.1:n.*2561A>G | |
| XR_001740079.1:n.1459+3566A>G | ||
| XR_001740080.1:n.1439+3566A>G | ||
| XR_001740081.1:n.1539+2504A>G | ||
| XR_924118.3:n.1459+3566A>G | ||
| NM_001320466.2:c.*3474A>G MANE Select | NP_001307395.1:n.*3474A>G | |
| NM_001320467.2:c.*3474A>G | NP_001307396.1:n.*3474A>G | |
| NM_001320468.2:c.*3474A>G | NP_001307397.1:n.*3474A>G | |
| NM_173570.5:c.*1371A>G | NP_775841.2:n.*1371A>G | |
| NR_135271.2:n.2644A>G |