Linked Data
dbSNP Id:
rs7617480
gnomAD v2:
3-49210732-A-C
gnomAD v3:
3-49173299-A-C
gnomAD v4:
3-49173299-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49173299A>C , CM000665.2:g.49173299A>C | GRCh38 |
| NC_000003.11:g.49210732A>C , CM000665.1:g.49210732A>C | GRCh37 |
| NC_000003.10:g.49185736A>C | NCBI36 |
| NG_027702.1:g.6715A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000332780.4:c.376+154A>C MANE Select | ENSP00000327468.2:n.376+154A>C | |
| ENST00000332780.3:c.376+154A>C | ENSP00000327468.2:n.376+154A>C | |
| ENST00000459846.6:n.230+498A>C | ||
| ENST00000476495.2:n.463+124A>C | ||
| NM_173546.2:c.376+154A>C | NP_775817.1:n.376+154A>C | |
| XM_005264938.1:c.376+154A>C | XP_005264995.1:n.376+154A>C | |
| XM_005264939.3:c.-6+498A>C | XP_005264996.1:n.-6+498A>C | |
| XM_005264940.3:c.-6+498A>C | XP_005264997.1:n.-6+498A>C | |
| XM_006713015.1:c.406+124A>C | XP_006713078.1:n.406+124A>C | |
| XM_006713016.1:c.406+124A>C | XP_006713079.1:n.406+124A>C | |
| XM_005264938.3:c.376+154A>C | XP_005264995.1:n.376+154A>C | |
| XM_005264940.4:c.-6+498A>C | XP_005264997.1:n.-6+498A>C | |
| XM_006713015.3:c.406+124A>C | XP_006713078.1:n.406+124A>C | |
| XM_006713016.3:c.406+124A>C | XP_006713079.1:n.406+124A>C | |
| NM_173546.3:c.376+154A>C MANE Select | NP_775817.1:n.376+154A>C |