Linked Data
dbSNP Id:
rs771786101
ExAC:
4:187201270 T / C
gnomAD v2:
4-187201270-T-C
gnomAD v4:
4-186280116-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186280116T>C , CM000666.2:g.186280116T>C | GRCh38 |
| NC_000004.11:g.187201270T>C , CM000666.1:g.187201270T>C | GRCh37 |
| NC_000004.10:g.187438264T>C | NCBI36 |
| NG_008051.1:g.19153T>C , LRG_583:g.19153T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000403665.7:c.860T>C MANE Select | ENSP00000384957.2:p.Ile287Thr | |
| ENST00000264692.8:c.698T>C | ENSP00000264692.5:p.Ile233Thr | |
| ENST00000403665.6:c.860T>C | ENSP00000384957.2:p.Ile287Thr | |
| ENST00000452239.1:c.307T>C | ||
| NM_000128.3:c.860T>C , LRG_583t1:c.860T>C | NP_000119.1:p.Ile287Thr | |
| XM_005262821.2:c.860T>C | XP_005262878.1:p.Ile287Thr | |
| XM_005262822.2:c.860T>C | XP_005262879.1:p.Ile287Thr | |
| XM_005262823.2:c.590T>C | XP_005262880.1:p.Ile197Thr | |
| XM_005262824.1:c.860T>C | XP_005262881.1:p.Ile287Thr | |
| XM_006714137.1:c.860T>C | XP_006714200.1:p.Ile287Thr | |
| XR_938706.1:n.1212T>C | ||
| XR_938707.1:n.1212T>C | ||
| XM_005262821.4:c.860T>C | XP_005262878.1:p.Ile287Thr | |
| XM_005262822.4:c.860T>C | XP_005262879.1:p.Ile287Thr | |
| XM_005262823.4:c.590T>C | XP_005262880.1:p.Ile197Thr | |
| XM_006714137.3:c.860T>C | XP_006714200.1:p.Ile287Thr | |
| XM_017007884.2:c.860T>C | XP_016863373.1:p.Ile287Thr | |
| XM_017007885.2:c.860T>C | XP_016863374.1:p.Ile287Thr | |
| XM_017007886.2:c.860T>C | XP_016863375.1:p.Ile287Thr | |
| XR_001741172.2:n.1193T>C | ||
| NM_000128.4:c.860T>C MANE Select | NP_000119.1:p.Ile287Thr |