Linked Data
ClinVar Variation Id:
178979
dbSNP Id:
rs727504584
gnomAD v2:
5-156021931-A-T
gnomAD v4:
5-156594921-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.156594921A>T , CM000667.2:g.156594921A>T | GRCh38 |
| NC_000005.9:g.156021931A>T , CM000667.1:g.156021931A>T | GRCh37 |
| NC_000005.8:g.155954509A>T | NCBI36 |
| NG_008693.2:g.729578A>T , LRG_205:g.729578A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337851.9:c.383-11A>T MANE Select | ENSP00000338343.4:n.383-11A>T | |
| ENST00000337851.8:c.383-11A>T | ENSP00000338343.4:n.383-11A>T | |
| ENST00000435422.7:c.380-11A>T | ENSP00000403003.2:n.380-11A>T | |
| ENST00000517913.5:c.383-11A>T | ENSP00000429378.1:n.383-11A>T | |
| NM_000337.5:c.383-11A>T , LRG_205t1:c.383-11A>T | NP_000328.2:n.383-11A>T | |
| NM_001128209.1:c.380-11A>T | NP_001121681.1:n.380-11A>T | |
| NM_172244.2:c.383-11A>T | NP_758447.1:n.383-11A>T | |
| XM_005265966.3:c.383-11A>T | XP_005266023.1:n.383-11A>T | |
| XM_005265967.1:c.383-11A>T | XP_005266024.1:n.383-11A>T | |
| XM_006714911.2:c.383-11A>T | XP_006714974.1:n.383-11A>T | |
| XM_011534621.1:c.380-11A>T | XP_011532923.1:n.380-11A>T | |
| XM_005265966.5:c.383-11A>T | XP_005266023.1:n.383-11A>T | |
| XM_005265967.2:c.383-11A>T | XP_005266024.1:n.383-11A>T | |
| XM_011534621.2:c.380-11A>T | XP_011532923.1:n.380-11A>T | |
| XM_017009723.2:c.383-11A>T | XP_016865212.1:n.383-11A>T | |
| XM_017009724.1:c.383-11A>T | XP_016865213.1:n.383-11A>T | |
| NM_001128209.2:c.380-11A>T | NP_001121681.1:n.380-11A>T | |
| NM_172244.3:c.383-11A>T | NP_758447.1:n.383-11A>T | |
| NM_000337.6:c.383-11A>T MANE Select | NP_000328.2:n.383-11A>T |