Linked Data
ClinVar Variation Id:
5733
ClinVar RCV Id:
RCV000006087
RCV000086315
RCV000809110
RCV000787576
RCV001074789
RCV001250601
RCV001196030
RCV001257864
RCV001826422
RCV002496280
dbSNP Id:
rs28939720
ExAC:
1:197396689 C / T
gnomAD v2:
1-197396689-C-T
gnomAD v3:
1-197427559-C-T
gnomAD v4:
1-197427559-C-T
PubMed:
PMID:10508521
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197427559C>T , CM000663.2:g.197427559C>T | GRCh38 |
| NC_000001.10:g.197396689C>T , CM000663.1:g.197396689C>T | GRCh37 |
| NC_000001.9:g.195663312C>T | NCBI36 |
| NG_008483.1:g.164282C>T | |
| NG_008483.2:g.231098C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367400.8:c.2234C>T MANE Select | ENSP00000356370.3:p.Thr745Met | |
| ENST00000638467.1:c.2234C>T | ENSP00000491102.1:p.Thr745Met | |
| ENST00000681519.1:c.1115C>T | ENSP00000505267.1:p.Thr372Met | |
| ENST00000367397.1:c.377C>T | ENSP00000356367.1:p.Thr126Met | |
| ENST00000367399.6:c.1898C>T | ENSP00000356369.2:p.Thr633Met | |
| ENST00000367400.7:c.2234C>T | ENSP00000356370.3:p.Thr745Met | |
| ENST00000480086.2:n.135C>T | ||
| ENST00000484075.5:c.2234C>T | ENSP00000433932.1:p.Thr745Met | |
| ENST00000535699.5:c.2027C>T | ENSP00000438786.1:p.Thr676Met | |
| ENST00000538660.5:c.2128+5603C>T | ENSP00000438091.1:n.2128+5603C>T | |
| NM_001193640.1:c.1898C>T | NP_001180569.1:p.Thr633Met | |
| NM_001257965.1:c.2027C>T | NP_001244894.1:p.Thr676Met | |
| NM_001257966.1:c.2128+5603C>T | NP_001244895.1:n.2128+5603C>T | |
| NM_201253.2:c.2234C>T | NP_957705.1:p.Thr745Met | |
| NR_047563.1:n.2235C>T | ||
| NR_047564.1:n.2443C>T | ||
| XM_011509365.1:c.2234C>T | XP_011507667.1:p.Thr745Met | |
| XM_011509366.1:c.2234C>T | XP_011507668.1:p.Thr745Met | |
| XM_011509367.1:c.2234C>T | XP_011507669.1:p.Thr745Met | |
| XM_011509368.1:c.1652C>T | XP_011507670.1:p.Thr551Met | |
| XM_011509369.1:c.677C>T | XP_011507671.1:p.Thr226Met | |
| XM_011509365.2:c.2234C>T | XP_011507667.1:p.Thr745Met | |
| XM_011509369.2:c.677C>T | XP_011507671.1:p.Thr226Met | |
| XM_017000851.1:c.1391C>T | XP_016856340.1:p.Thr464Met | |
| XM_017000852.1:c.2234C>T | XP_016856341.1:p.Thr745Met | |
| NM_201253.3:c.2234C>T MANE Select | NP_957705.1:p.Thr745Met | |
| NM_001193640.2:c.1898C>T | NP_001180569.1:p.Thr633Met | |
| NM_001257965.2:c.2027C>T | NP_001244894.1:p.Thr676Met | |
| NR_047563.2:n.2187C>T | ||
| NR_047564.2:n.2395C>T | ||
| NM_001257966.2:c.2128+5603C>T | NP_001244895.1:n.2128+5603C>T |