Linked Data
dbSNP Id:
rs45518335
ExAC:
8:18258196 C / T
gnomAD v2:
8-18258196-C-T
gnomAD v3:
8-18400686-C-T
gnomAD v4:
8-18400686-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.18400686C>T , CM000670.2:g.18400686C>T | GRCh38 |
| NC_000008.10:g.18258196C>T , CM000670.1:g.18258196C>T | GRCh37 |
| NC_000008.9:g.18302476C>T | NCBI36 |
| NG_012246.1:g.14442C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286479.4:c.683C>T MANE Select | ENSP00000286479.3:p.Pro228Leu | |
| ENST00000286479.3:c.683C>T | ENSP00000286479.3:p.Pro228Leu | |
| ENST00000520116.1:c.293C>T | ENSP00000428416.1:p.Pro98Leu | |
| NM_000015.2:c.683C>T | NP_000006.2:p.Pro228Leu | |
| XM_011544358.1:c.683C>T | XP_011542660.1:p.Pro228Leu | |
| XM_017012938.1:c.683C>T | XP_016868427.1:p.Pro228Leu | |
| NM_000015.3:c.683C>T MANE Select | NP_000006.2:p.Pro228Leu |