Linked Data
ClinVar Variation Id:
626962
ClinVar RCV Id:
RCV000851646
dbSNP Id:
rs767727775
ExAC:
4:187195303 T / C
gnomAD v2:
4-187195303-T-C
gnomAD v4:
4-186274149-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186274149T>C , CM000666.2:g.186274149T>C | GRCh38 |
| NC_000004.11:g.187195303T>C , CM000666.1:g.187195303T>C | GRCh37 |
| NC_000004.10:g.187432297T>C | NCBI36 |
| NG_008051.1:g.13186T>C , LRG_583:g.13186T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000403665.7:c.359T>C MANE Select | ENSP00000384957.2:p.Met120Thr | |
| ENST00000264692.8:c.323+974T>C | ENSP00000264692.5:n.323+974T>C | |
| ENST00000403665.6:c.359T>C | ENSP00000384957.2:p.Met120Thr | |
| ENST00000492972.6:c.359T>C | ENSP00000424479.1:p.Met120Thr | |
| ENST00000514715.1:n.231T>C | ||
| NM_000128.3:c.359T>C , LRG_583t1:c.359T>C | NP_000119.1:p.Met120Thr | |
| XM_005262821.2:c.359T>C | XP_005262878.1:p.Met120Thr | |
| XM_005262822.2:c.359T>C | XP_005262879.1:p.Met120Thr | |
| XM_005262823.2:c.359T>C | XP_005262880.1:p.Met120Thr | |
| XM_005262824.1:c.359T>C | XP_005262881.1:p.Met120Thr | |
| XM_006714137.1:c.359T>C | XP_006714200.1:p.Met120Thr | |
| XR_938706.1:n.711T>C | ||
| XR_938707.1:n.711T>C | ||
| NM_001354804.1:c.359T>C | NP_001341733.1:p.Met120Thr | |
| XM_005262821.4:c.359T>C | XP_005262878.1:p.Met120Thr | |
| XM_005262822.4:c.359T>C | XP_005262879.1:p.Met120Thr | |
| XM_005262823.4:c.359T>C | XP_005262880.1:p.Met120Thr | |
| XM_006714137.3:c.359T>C | XP_006714200.1:p.Met120Thr | |
| XM_017007884.2:c.359T>C | XP_016863373.1:p.Met120Thr | |
| XM_017007885.2:c.359T>C | XP_016863374.1:p.Met120Thr | |
| XM_017007886.2:c.359T>C | XP_016863375.1:p.Met120Thr | |
| XR_001741172.2:n.692T>C | ||
| NM_000128.4:c.359T>C MANE Select | NP_000119.1:p.Met120Thr | |
| NM_001354804.2:c.359T>C | NP_001341733.1:p.Met120Thr |