Linked Data
dbSNP Id:
rs773318800
ExAC:
1:200007823 C / T
gnomAD v2:
1-200007823-C-T
gnomAD v4:
1-200038695-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.200038695C>T , CM000663.2:g.200038695C>T | GRCh38 |
| NC_000001.10:g.200007823C>T , CM000663.1:g.200007823C>T | GRCh37 |
| NC_000001.9:g.198274446C>T | NCBI36 |
| NG_050913.1:g.16094C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367362.8:c.65-963C>T MANE Select | ENSP00000356331.3:n.65-963C>T | |
| ENST00000236914.7:c.65-5079C>T | ENSP00000236914.3:n.65-5079C>T | |
| ENST00000367362.7:c.65-963C>T | ENSP00000356331.3:n.65-963C>T | |
| ENST00000447034.1:c.30-6C>T | ||
| ENST00000474307.1:c.*419-5079C>T | ENSP00000436776.1:n.*419-5079C>T | |
| NM_003822.4:c.65-5079C>T | NP_003813.1:n.65-5079C>T | |
| NM_205860.2:c.65-963C>T | NP_995582.1:n.65-963C>T | |
| XM_011509380.1:c.-56-963C>T | XP_011507682.1:n.-56-963C>T | |
| XM_011509382.1:c.-14-5079C>T | XP_011507684.1:n.-14-5079C>T | |
| XM_011509381.3:c.-134C>T | XP_011507683.1:n.-134C>T | |
| NM_205860.3:c.65-963C>T MANE Select | NP_995582.1:n.65-963C>T | |
| NM_003822.5:c.65-5079C>T | NP_003813.1:n.65-5079C>T |