Linked Data
ClinVar Variation Id:
255344
dbSNP Id:
rs17883400
ExAC:
4:1803341 G / A
gnomAD v2:
4-1803341-G-A
gnomAD v3:
4-1801614-G-A
gnomAD v4:
4-1801614-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.1801614G>A , CM000666.2:g.1801614G>A | GRCh38 |
| NC_000004.11:g.1803341G>A , CM000666.1:g.1803341G>A | GRCh37 |
| NC_000004.10:g.1773139G>A | NCBI36 |
| NG_012632.1:g.13303G>A , LRG_1021:g.13303G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340107.9:c.616-6G>A | ENSP00000339824.4:n.616-6G>A | |
| ENST00000260795.8:c.616-6G>A | ENSP00000260795.3:n.616-6G>A | |
| ENST00000352904.6:c.616-6G>A | ENSP00000231803.1:n.616-6G>A | |
| ENST00000412135.7:c.604-6G>A | ENSP00000412903.3:n.604-6G>A | |
| ENST00000440486.8:c.616-6G>A MANE Select | ENSP00000414914.2:n.616-6G>A | |
| ENST00000481110.7:c.616-6G>A | ENSP00000420533.2:n.616-6G>A | |
| ENST00000260795.6:c.616-6G>A | ENSP00000260795.2:n.616-6G>A | |
| ENST00000340107.8:c.616-6G>A | ENSP00000339824.4:n.616-6G>A | |
| ENST00000352904.5:c.616-6G>A | ENSP00000231803.1:n.616-6G>A | |
| ENST00000412135.6:c.616-6G>A | ENSP00000412903.2:n.616-6G>A | |
| ENST00000440486.6:c.616-6G>A | ENSP00000414914.2:n.616-6G>A | |
| ENST00000481110.6:c.616-6G>A | ENSP00000420533.2:n.616-6G>A | |
| ENST00000507588.1:c.76-6G>A | ENSP00000427289.1:n.76-6G>A | |
| ENST00000613647.4:c.616-6G>A | ENSP00000479472.1:n.616-6G>A | |
| NM_000142.4:c.616-6G>A , LRG_1021t1:c.616-6G>A | NP_000133.1:n.616-6G>A | |
| NM_001163213.1:c.616-6G>A , LRG_1021t2:c.616-6G>A | NP_001156685.1:n.616-6G>A | |
| NM_022965.3:c.616-6G>A | NP_075254.1:n.616-6G>A | |
| XM_006713868.1:c.616-6G>A | XP_006713931.1:n.616-6G>A | |
| XM_006713869.1:c.616-6G>A | XP_006713932.1:n.616-6G>A | |
| XM_006713870.1:c.616-6G>A | XP_006713933.1:n.616-6G>A | |
| XM_006713871.1:c.616-6G>A | XP_006713934.1:n.616-6G>A | |
| XM_006713872.1:c.616-6G>A | XP_006713935.1:n.616-6G>A | |
| XM_006713873.1:c.616-6G>A | XP_006713936.1:n.616-6G>A | |
| XM_011513420.1:c.616-6G>A | XP_011511722.1:n.616-6G>A | |
| XM_011513422.1:c.616-6G>A | XP_011511724.1:n.616-6G>A | |
| NM_001354809.1:c.616-6G>A | NP_001341738.1:n.616-6G>A | |
| NM_001354810.1:c.616-6G>A | NP_001341739.1:n.616-6G>A | |
| NR_148971.1:n.872-6G>A | ||
| NM_001354809.2:c.616-6G>A | NP_001341738.1:n.616-6G>A | |
| NM_001354810.2:c.616-6G>A | NP_001341739.1:n.616-6G>A | |
| NR_148971.2:n.891-6G>A | ||
| NM_000142.5:c.616-6G>A MANE Select | NP_000133.1:n.616-6G>A | |
| NM_001163213.2:c.616-6G>A | NP_001156685.1:n.616-6G>A | |
| NM_022965.4:c.616-6G>A | NP_075254.1:n.616-6G>A |