Linked Data
ClinVar Variation Id:
294675
dbSNP Id:
rs140494140
ExAC:
1:197396680 T / C
gnomAD v2:
1-197396680-T-C
gnomAD v3:
1-197427550-T-C
gnomAD v4:
1-197427550-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197427550T>C , CM000663.2:g.197427550T>C | GRCh38 |
| NC_000001.10:g.197396680T>C , CM000663.1:g.197396680T>C | GRCh37 |
| NC_000001.9:g.195663303T>C | NCBI36 |
| NG_008483.1:g.164273T>C | |
| NG_008483.2:g.231089T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367400.8:c.2225T>C MANE Select | ENSP00000356370.3:p.Phe742Ser | |
| ENST00000638467.1:c.2225T>C | ENSP00000491102.1:p.Phe742Ser | |
| ENST00000681519.1:c.1106T>C | ENSP00000505267.1:p.Phe369Ser | |
| ENST00000367397.1:c.368T>C | ENSP00000356367.1:p.Phe123Ser | |
| ENST00000367399.6:c.1889T>C | ENSP00000356369.2:p.Phe630Ser | |
| ENST00000367400.7:c.2225T>C | ENSP00000356370.3:p.Phe742Ser | |
| ENST00000480086.2:n.126T>C | ||
| ENST00000484075.5:c.2225T>C | ENSP00000433932.1:p.Phe742Ser | |
| ENST00000535699.5:c.2018T>C | ENSP00000438786.1:p.Phe673Ser | |
| ENST00000538660.5:c.2128+5594T>C | ENSP00000438091.1:n.2128+5594T>C | |
| NM_001193640.1:c.1889T>C | NP_001180569.1:p.Phe630Ser | |
| NM_001257965.1:c.2018T>C | NP_001244894.1:p.Phe673Ser | |
| NM_001257966.1:c.2128+5594T>C | NP_001244895.1:n.2128+5594T>C | |
| NM_201253.2:c.2225T>C | NP_957705.1:p.Phe742Ser | |
| NR_047563.1:n.2226T>C | ||
| NR_047564.1:n.2434T>C | ||
| XM_011509365.1:c.2225T>C | XP_011507667.1:p.Phe742Ser | |
| XM_011509366.1:c.2225T>C | XP_011507668.1:p.Phe742Ser | |
| XM_011509367.1:c.2225T>C | XP_011507669.1:p.Phe742Ser | |
| XM_011509368.1:c.1643T>C | XP_011507670.1:p.Phe548Ser | |
| XM_011509369.1:c.668T>C | XP_011507671.1:p.Phe223Ser | |
| XM_011509365.2:c.2225T>C | XP_011507667.1:p.Phe742Ser | |
| XM_011509369.2:c.668T>C | XP_011507671.1:p.Phe223Ser | |
| XM_017000851.1:c.1382T>C | XP_016856340.1:p.Phe461Ser | |
| XM_017000852.1:c.2225T>C | XP_016856341.1:p.Phe742Ser | |
| NM_201253.3:c.2225T>C MANE Select | NP_957705.1:p.Phe742Ser | |
| NM_001193640.2:c.1889T>C | NP_001180569.1:p.Phe630Ser | |
| NM_001257965.2:c.2018T>C | NP_001244894.1:p.Phe673Ser | |
| NR_047563.2:n.2178T>C | ||
| NR_047564.2:n.2386T>C | ||
| NM_001257966.2:c.2128+5594T>C | NP_001244895.1:n.2128+5594T>C |