Linked Data
ClinVar Variation Id:
2536999
ClinVar RCV Id:
RCV003271351
dbSNP Id:
rs1198036400
gnomAD v2:
16-28856355-G-T
gnomAD v3:
16-28845034-G-T
gnomAD v4:
16-28845034-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.28845034G>T , CM000678.2:g.28845034G>T | GRCh38 |
| NC_000016.9:g.28856355G>T , CM000678.1:g.28856355G>T | GRCh37 |
| NC_000016.8:g.28763856G>T | NCBI36 |
| NG_008964.1:g.6375C>A | |
| NG_029706.2:g.3435G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313511.8:c.436C>A MANE Select | ENSP00000322439.3:p.Pro146Thr | |
| ENST00000313511.7:c.436C>A | ENSP00000322439.3:p.Pro146Thr | |
| ENST00000565012.1:c.269C>A | ENSP00000455007.1:p.Thr90Asn | |
| NM_003321.4:c.436C>A | NP_003312.3:p.Pro146Thr | |
| XM_011545928.1:c.436C>A | XP_011544230.1:p.Pro146Thr | |
| NM_001365360.1:c.436C>A | NP_001352289.1:p.Pro146Thr | |
| NM_003321.5:c.436C>A MANE Select | NP_003312.3:p.Pro146Thr | |
| NM_001365360.2:c.436C>A | NP_001352289.1:p.Pro146Thr |