Linked Data
ClinVar Variation Id:
263286
dbSNP Id:
rs143595300
ExAC:
11:44193143 G / T
gnomAD v2:
11-44193143-G-T
gnomAD v3:
11-44171593-G-T
gnomAD v4:
11-44171593-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.44171593G>T , CM000673.2:g.44171593G>T | GRCh38 |
| NC_000011.9:g.44193143G>T , CM000673.1:g.44193143G>T | GRCh37 |
| NC_000011.8:g.44149719G>T | NCBI36 |
| NG_007560.1:g.81045G>T , LRG_494:g.81045G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343631.4:c.1174-18G>T | ENSP00000342656.3:n.1174-18G>T | |
| ENST00000395673.8:c.1174-18G>T | ENSP00000379032.4:n.1174-18G>T | |
| ENST00000682359.1:c.940-18G>T | ENSP00000508226.1:n.940-18G>T | |
| ENST00000682711.1:c.-543-18G>T | ENSP00000506803.1:n.-543-18G>T | |
| ENST00000682815.1:c.1080-18G>T | ENSP00000507234.1:n.1080-18G>T | |
| ENST00000682947.1:n.1348-18G>T | ||
| ENST00000682993.1:c.1174-18G>T | ENSP00000507580.1:n.1174-18G>T | |
| ENST00000683000.1:c.1174-18G>T | ENSP00000508361.1:n.1174-18G>T | |
| ENST00000683299.1:n.1591-18G>T | ||
| ENST00000683870.1:c.1080-18G>T | ENSP00000507922.1:n.1080-18G>T | |
| ENST00000683881.1:n.3735-18G>T | ||
| ENST00000684039.1:c.1174-18G>T | ENSP00000507677.1:n.1174-18G>T | |
| ENST00000684124.1:c.1174-18G>T | ENSP00000508332.1:n.1174-18G>T | |
| ENST00000684533.1:c.838-18G>T | ENSP00000507915.1:n.838-18G>T | |
| ENST00000533608.7:c.1174-18G>T MANE Select | ENSP00000431173.2:n.1174-18G>T | |
| ENST00000343631.3:c.1174-18G>T | ENSP00000342656.3:n.1174-18G>T | |
| ENST00000358681.8:c.1267-81G>T | ENSP00000351509.4:n.1267-81G>T | |
| ENST00000395673.7:c.1273-18G>T | ENSP00000379032.3:n.1273-18G>T | |
| ENST00000525559.1:n.148-18G>T | ||
| ENST00000531161.5:n.351-18G>T | ||
| ENST00000533608.5:c.1174-18G>T | ENSP00000431173.1:n.1174-18G>T | |
| ENST00000534048.1:n.97-18G>T | ||
| NM_000401.3:c.1273-18G>T , LRG_494t1:c.1273-18G>T | NP_000392.3:n.1273-18G>T | |
| NM_001178083.1:c.1267-81G>T | NP_001171554.1:n.1267-81G>T | |
| NM_207122.1:c.1174-18G>T , LRG_494t2:c.1174-18G>T | NP_997005.1:n.1174-18G>T | |
| XM_011519950.1:c.1312-18G>T | XP_011518252.1:n.1312-18G>T | |
| XM_011519951.1:c.1213-18G>T | XP_011518253.1:n.1213-18G>T | |
| XM_024448383.1:c.1312-18G>T | XP_024304151.1:n.1312-18G>T | |
| NM_001178083.2:c.1267-81G>T | NP_001171554.1:n.1267-81G>T | |
| NM_207122.2:c.1174-18G>T MANE Select | NP_997005.1:n.1174-18G>T | |
| NM_001178083.3:c.1267-81G>T | NP_001171554.1:n.1267-81G>T | |
| NM_001389628.1:c.1174-18G>T | NP_001376557.1:n.1174-18G>T | |
| NM_001389630.1:c.1174-18G>T | NP_001376559.1:n.1174-18G>T |