Linked Data
dbSNP Id:
rs10995170
gnomAD v2:
10-64223383-T-C
gnomAD v3:
10-62463624-T-C
gnomAD v4:
10-62463624-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.62463624T>C , CM000672.2:g.62463624T>C | GRCh38 |
| NC_000010.10:g.64223383T>C , CM000672.1:g.64223383T>C | GRCh37 |
| NC_000010.9:g.63893389T>C | NCBI36 |
| NG_021209.1:g.94468T>C | |
| NG_021209.2:g.94433T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647733.1:c.981+3827T>C | ENSP00000502188.1:n.981+3827T>C | |
| ENST00000395255.7:c.981+3827T>C | ENSP00000378675.3:n.981+3827T>C | |
| ENST00000410046.7:c.981+3827T>C | ENSP00000387091.3:n.981+3827T>C | |
| NM_199450.2:c.981+3827T>C | NP_955522.1:n.981+3827T>C | |
| NM_199451.2:c.981+3827T>C | NP_955523.1:n.981+3827T>C | |
| XM_017015937.2:c.981+3827T>C | XP_016871426.1:n.981+3827T>C | |
| NM_199451.3:c.981+3827T>C | NP_955523.1:n.981+3827T>C | |
| NM_199450.3:c.981+3827T>C | NP_955522.1:n.981+3827T>C |