Linked Data
ClinVar Variation Id:
352433
dbSNP Id:
rs549743616
gnomAD v2:
5-156193318-C-T
gnomAD v3:
5-156766307-C-T
gnomAD v4:
5-156766307-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.156766307C>T , CM000667.2:g.156766307C>T | GRCh38 |
| NC_000005.9:g.156193318C>T , CM000667.1:g.156193318C>T | GRCh37 |
| NC_000005.8:g.156125896C>T | NCBI36 |
| NG_008693.2:g.900965C>T , LRG_205:g.900965C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337851.9:c.*6917C>T MANE Select | ENSP00000338343.4:n.*6917C>T | |
| ENST00000435422.7:c.*6917C>T | ENSP00000403003.2:n.*6917C>T | |
| NM_000337.5:c.*6917C>T , LRG_205t1:c.*6917C>T | NP_000328.2:n.*6917C>T | |
| NM_001128209.1:c.*6917C>T | NP_001121681.1:n.*6917C>T | |
| XM_005265966.3:c.*6917C>T | XP_005266023.1:n.*6917C>T | |
| XM_006714911.2:c.*6917C>T | XP_006714974.1:n.*6917C>T | |
| XM_011534621.1:c.*6917C>T | XP_011532923.1:n.*6917C>T | |
| NM_001128209.2:c.*6917C>T | NP_001121681.1:n.*6917C>T | |
| NM_000337.6:c.*6917C>T MANE Select | NP_000328.2:n.*6917C>T |