Linked Data
ClinVar Variation Id:
5467
dbSNP Id:
rs1050501
ExAC:
1:161643798 T / C
gnomAD v2:
1-161643798-T-C
gnomAD v3:
1-161674008-T-C
gnomAD v4:
1-161674008-T-C
CIViC:
CA117549
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161674008T>C , CM000663.2:g.161674008T>C | GRCh38 |
| NC_000001.10:g.161643798T>C , CM000663.1:g.161643798T>C | GRCh37 |
| NC_000001.9:g.159910422T>C | NCBI36 |
| NG_023318.1:g.15894T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000358671.10:c.695T>C MANE Select | ENSP00000351497.5:p.Ile232Thr | |
| ENST00000236937.13:c.695T>C | ENSP00000236937.9:p.Ile232Thr | |
| ENST00000358671.9:c.695T>C | ENSP00000351497.5:p.Ile232Thr | |
| ENST00000367961.8:c.674T>C | ENSP00000356938.4:p.Ile225Thr | |
| ENST00000428605.3:c.695T>C | ENSP00000404329.3:p.Ile232Thr | |
| ENST00000480308.5:n.745T>C | ||
| ENST00000485778.1:n.2063T>C | ||
| NM_001002273.2:c.692T>C | NP_001002273.1:p.Ile231Thr | |
| NM_001002274.2:c.695T>C | NP_001002274.1:p.Ile232Thr | |
| NM_001002275.2:c.692T>C | NP_001002275.1:p.Ile231Thr | |
| NM_001190828.1:c.674T>C | NP_001177757.1:p.Ile225Thr | |
| NM_004001.4:c.695T>C | NP_003992.3:p.Ile232Thr | |
| XM_017000670.2:c.692T>C | XP_016856159.1:p.Ile231Thr | |
| XM_024454043.1:c.695T>C | XP_024309811.1:p.Ile232Thr | |
| XM_024454044.1:c.692T>C | XP_024309812.1:p.Ile231Thr | |
| XM_024454045.1:c.692T>C | XP_024309813.1:p.Ile231Thr | |
| NM_001002273.3:c.692T>C | NP_001002273.1:p.Ile231Thr | |
| NM_001002274.3:c.695T>C | NP_001002274.1:p.Ile232Thr | |
| NM_001002275.3:c.692T>C | NP_001002275.1:p.Ile231Thr | |
| NM_001190828.2:c.674T>C | NP_001177757.1:p.Ile225Thr | |
| NM_001386000.1:c.671T>C | NP_001372929.1:p.Ile224Thr | |
| NM_001386001.1:c.674T>C | NP_001372930.1:p.Ile225Thr | |
| NM_001386002.1:c.671T>C | NP_001372931.1:p.Ile224Thr | |
| NM_001386003.1:c.695T>C | NP_001372932.1:p.Ile232Thr | |
| NM_001386004.1:c.671T>C | NP_001372933.1:p.Ile224Thr | |
| NM_001386005.1:c.695T>C | NP_001372934.1:p.Ile232Thr | |
| NM_001386006.1:c.674T>C | NP_001372935.1:p.Ile225Thr | |
| NM_004001.5:c.695T>C | NP_003992.3:p.Ile232Thr | |
| NR_169827.1:n.924T>C | ||
| NM_001394477.1:c.695T>C MANE Select | NP_001381406.1:p.Ile232Thr |