Linked Data
ClinVar Variation Id:
350583
ClinVar RCV Id:
RCV000342772
dbSNP Id:
rs367574304
ExAC:
5:125894921 G / A
gnomAD v2:
5-125894921-G-A
gnomAD v3:
5-126559229-G-A
gnomAD v4:
5-126559229-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.126559229G>A , CM000667.2:g.126559229G>A | GRCh38 |
| NC_000005.9:g.125894921G>A , CM000667.1:g.125894921G>A | GRCh37 |
| NC_000005.8:g.125922820G>A | NCBI36 |
| NG_008600.2:g.41162C>T | |
| NG_008600.3:g.41162C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409134.8:c.1008+11C>T MANE Select | ENSP00000387123.3:n.1008+11C>T | |
| ENST00000458249.6:c.*917+11C>T | ENSP00000403929.1:n.*917+11C>T | |
| ENST00000497231.7:n.1435+11C>T | ||
| ENST00000503281.6:c.597+11C>T | ||
| ENST00000509459.6:c.517+11C>T | ||
| ENST00000635851.1:c.1006+11C>T | ||
| ENST00000636062.1:n.903+11C>T | ||
| ENST00000636225.1:c.*952+11C>T | ENSP00000490797.1:n.*952+11C>T | |
| ENST00000636286.1:n.726+11C>T | ||
| ENST00000636482.1:n.495+11C>T | ||
| ENST00000636743.1:c.888+11C>T | ENSP00000489725.1:n.888+11C>T | |
| ENST00000636808.1:c.*817+11C>T | ENSP00000490833.1:n.*817+11C>T | |
| ENST00000636872.1:c.1168+11C>T | ENSP00000490919.1:n.1168+11C>T | |
| ENST00000636879.1:c.1053+11C>T | ENSP00000490811.1:n.1053+11C>T | |
| ENST00000636886.1:c.807+11C>T | ENSP00000490371.1:n.807+11C>T | |
| ENST00000637206.1:c.913+1854C>T | ENSP00000489895.1:n.913+1854C>T | |
| ENST00000637272.1:c.999+11C>T | ENSP00000489686.1:n.999+11C>T | |
| ENST00000637292.1:c.581+11C>T | ||
| ENST00000637782.1:c.1008+11C>T | ENSP00000490024.1:n.1008+11C>T | |
| ENST00000637964.1:c.954+11C>T | ENSP00000490291.1:n.954+11C>T | |
| ENST00000638008.1:c.*852+11C>T | ENSP00000490400.1:n.*852+11C>T | |
| ENST00000409134.7:c.1008+11C>T | ENSP00000387123.3:n.1008+11C>T | |
| ENST00000447989.6:c.1089+11C>T | ENSP00000414132.2:n.1089+11C>T | |
| ENST00000497231.6:n.1218+11C>T | ||
| ENST00000503281.5:c.597+11C>T | ||
| ENST00000509459.5:c.517+11C>T | ||
| ENST00000553117.5:c.1008+11C>T | ENSP00000448593.1:n.1008+11C>T | |
| NM_001182.4:c.1008+11C>T | NP_001173.2:n.1008+11C>T | |
| NM_001201377.1:c.924+11C>T | NP_001188306.1:n.924+11C>T | |
| NM_001202404.1:c.1089+11C>T | NP_001189333.1:n.1089+11C>T | |
| XM_011543417.1:c.603+11C>T | XP_011541719.1:n.603+11C>T | |
| XM_011543417.2:c.603+11C>T | XP_011541719.1:n.603+11C>T | |
| NM_001182.5:c.1008+11C>T MANE Select | NP_001173.2:n.1008+11C>T | |
| NM_001201377.2:c.924+11C>T | NP_001188306.1:n.924+11C>T | |
| NM_001202404.2:c.1008+11C>T | NP_001189333.2:n.1008+11C>T |