Linked Data
dbSNP Id:
rs10822184
gnomAD v2:
10-65337153-T-C
gnomAD v3:
10-63577393-T-C
gnomAD v4:
10-63577393-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.63577393T>C , CM000672.2:g.63577393T>C | GRCh38 |
| NC_000010.10:g.65337153T>C , CM000672.1:g.65337153T>C | GRCh37 |
| NC_000010.9:g.65007159T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000373758.5:c.105+10983T>C MANE Select | ENSP00000362863.4:n.105+10983T>C | |
| ENST00000373758.4:c.105+10983T>C | ENSP00000362863.4:n.105+10983T>C | |
| NM_001001330.2:c.105+10983T>C | NP_001001330.1:n.105+10983T>C | |
| XM_011539501.1:c.105+10983T>C | XP_011537803.1:n.105+10983T>C | |
| XM_011539501.2:c.105+10983T>C | XP_011537803.1:n.105+10983T>C | |
| XM_017015896.1:c.105+10983T>C | XP_016871385.1:n.105+10983T>C | |
| NM_001001330.3:c.105+10983T>C MANE Select | NP_001001330.1:n.105+10983T>C |