Linked Data
ClinVar Variation Id:
2872149
ClinVar RCV Id:
RCV003608461
dbSNP Id:
rs750028609
ExAC:
12:109994857 T / C
gnomAD v2:
12-109994857-T-C
gnomAD v3:
12-109557052-T-C
gnomAD v4:
12-109557052-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.109557052T>C , CM000674.2:g.109557052T>C | GRCh38 |
| NC_000012.11:g.109994857T>C , CM000674.1:g.109994857T>C | GRCh37 |
| NC_000012.10:g.108479240T>C | NCBI36 |
| NG_007096.1:g.21446A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545712.7:c.729A>G MANE Select | ENSP00000445920.1:p.Pro243= | |
| ENST00000537496.5:c.*294A>G | ENSP00000444793.1:n.*294A>G | |
| ENST00000540016.5:c.573A>G | ENSP00000474582.1:p.Pro191= | |
| ENST00000541763.6:c.954A>G | ENSP00000474981.1:n.954A>G | |
| ENST00000544051.5:c.*610A>G | ENSP00000438079.1:n.*610A>G | |
| ENST00000545712.6:c.729A>G | ENSP00000445920.1:p.Pro243= | |
| NM_052845.3:c.729A>G | NP_443077.1:p.Pro243= | |
| NR_038118.1:n.889A>G | ||
| XM_011538266.1:c.*76A>G | XP_011536568.1:n.*76A>G | |
| XM_011538267.1:c.*76A>G | XP_011536569.1:n.*76A>G | |
| XM_011538268.1:c.456A>G | XP_011536570.1:p.Pro152= | |
| XM_011538269.1:c.453A>G | XP_011536571.1:p.Pro151= | |
| XM_011538267.3:c.*76A>G | XP_011536569.1:n.*76A>G | |
| XM_011538268.2:c.456A>G | XP_011536570.1:p.Pro152= | |
| XM_011538269.2:c.453A>G | XP_011536571.1:p.Pro151= | |
| NM_052845.4:c.729A>G MANE Select | NP_443077.1:p.Pro243= | |
| NR_038118.2:n.840A>G |