Linked Data
dbSNP Id:
rs993351143
gnomAD v4:
16-4762292-G-A
MyVariant Identifiers:
chr16:g.4812293G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.4762292G>A , CM000678.2:g.4762292G>A | GRCh38 |
| NC_000016.9:g.4812293G>A , CM000678.1:g.4812293G>A | GRCh37 |
| NC_000016.8:g.4752294G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219478.11:c.642C>T MANE Select | ENSP00000219478.5:p.Pro214= | |
| ENST00000219478.10:c.642C>T | ENSP00000219478.5:p.Pro214= | |
| ENST00000545009.1:c.642C>T | ENSP00000445714.1:p.Pro214= | |
| ENST00000589422.1:c.*170C>T | ENSP00000466375.1:n.*170C>T | |
| NM_001303450.1:c.642C>T | NP_001290379.1:p.Pro214= | |
| NM_021646.2:c.642C>T | NP_067678.1:p.Pro214= | |
| XM_005255243.2:c.291C>T | XP_005255300.1:p.Pro97= | |
| XM_011522453.1:c.642C>T | XP_011520755.1:p.Pro214= | |
| XM_011522454.1:c.18C>T | XP_011520756.1:p.Pro6= | |
| NM_021646.3:c.642C>T | NP_067678.1:p.Pro214= | |
| XM_005255243.4:c.291C>T | XP_005255300.1:p.Pro97= | |
| XM_011522453.2:c.642C>T | XP_011520755.1:p.Pro214= | |
| XM_011522454.3:c.18C>T | XP_011520756.1:p.Pro6= | |
| XM_017023121.2:c.18C>T | XP_016878610.1:p.Pro6= | |
| NM_001303450.2:c.642C>T | NP_001290379.1:p.Pro214= | |
| NM_021646.4:c.642C>T MANE Select | NP_067678.1:p.Pro214= |