Linked Data
dbSNP Id:
rs10033237
gnomAD v2:
4-82122787-A-G
gnomAD v3:
4-81201633-A-G
gnomAD v4:
4-81201633-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.81201633A>G , CM000666.2:g.81201633A>G | GRCh38 |
| NC_000004.11:g.82122787A>G , CM000666.1:g.82122787A>G | GRCh37 |
| NC_000004.10:g.82341811A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264399.6:c.461+2954T>C MANE Select | ENSP00000264399.1:n.461+2954T>C | |
| ENST00000264399.5:c.461+2954T>C | ENSP00000264399.1:n.461+2954T>C | |
| ENST00000395578.3:c.461+2954T>C | ENSP00000378945.1:n.461+2954T>C | |
| ENST00000628926.1:c.461+2954T>C | ENSP00000486129.1:n.461+2954T>C | |
| NM_001282485.1:c.461+2954T>C | NP_001269414.1:n.461+2954T>C | |
| NM_006259.2:c.461+2954T>C | NP_006250.1:n.461+2954T>C | |
| XM_005263126.2:c.461+2954T>C | XP_005263183.1:n.461+2954T>C | |
| XM_011532114.1:c.461+2954T>C | XP_011530416.1:n.461+2954T>C | |
| XM_011532115.1:c.461+2954T>C | XP_011530417.1:n.461+2954T>C | |
| XM_011532116.1:c.461+2954T>C | XP_011530418.1:n.461+2954T>C | |
| NM_001363401.1:c.461+2954T>C | NP_001350330.1:n.461+2954T>C | |
| XM_017008413.1:c.461+2954T>C | XP_016863902.1:n.461+2954T>C | |
| XM_017008414.1:c.461+2954T>C | XP_016863903.1:n.461+2954T>C | |
| XM_017008415.1:c.461+2954T>C | XP_016863904.1:n.461+2954T>C | |
| XM_017008416.1:c.461+2954T>C | XP_016863905.1:n.461+2954T>C | |
| XM_017008417.1:c.461+2954T>C | XP_016863906.1:n.461+2954T>C | |
| XM_017008418.1:c.461+2954T>C | XP_016863907.1:n.461+2954T>C | |
| NM_001282485.2:c.461+2954T>C | NP_001269414.1:n.461+2954T>C | |
| NM_001363401.2:c.461+2954T>C | NP_001350330.1:n.461+2954T>C | |
| NM_006259.3:c.461+2954T>C MANE Select | NP_006250.1:n.461+2954T>C |