Linked Data
ClinVar Variation Id:
2308259
ClinVar RCV Id:
RCV002874914
dbSNP Id:
rs1327285914
gnomAD v2:
6-139694396-A-G
gnomAD v3:
6-139373259-A-G
gnomAD v4:
6-139373259-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.139373259A>G , CM000668.2:g.139373259A>G | GRCh38 |
| NC_000006.11:g.139694396A>G , CM000668.1:g.139694396A>G | GRCh37 |
| NC_000006.10:g.139736089A>G | NCBI36 |
| NG_016169.1:g.6390T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367651.4:c.686T>C MANE Select | ENSP00000356623.2:p.Met229Thr | |
| ENST00000367651.3:c.686T>C | ENSP00000356623.2:p.Met229Thr | |
| ENST00000536159.2:c.686T>C | ENSP00000442831.1:p.Met229Thr | |
| ENST00000537332.2:c.701T>C | ENSP00000444198.2:p.Met234Thr | |
| ENST00000618718.1:c.515T>C | ENSP00000479918.1:p.Met172Thr | |
| NM_001168388.2:c.686T>C | NP_001161860.1:p.Met229Thr | |
| NM_001168389.2:c.701T>C | NP_001161861.2:p.Met234Thr | |
| NM_006079.4:c.686T>C | NP_006070.2:p.Met229Thr | |
| NM_006079.5:c.686T>C MANE Select | NP_006070.2:p.Met229Thr | |
| NM_001168388.3:c.686T>C | NP_001161860.1:p.Met229Thr | |
| NM_001168389.3:c.701T>C | NP_001161861.2:p.Met234Thr |