Linked Data
ClinVar Variation Id:
99870
ClinVar RCV Id:
RCV000086308
RCV000797320
RCV001376374
RCV001826777
RCV003453013
RCV003235040
RCV003453012
dbSNP Id:
rs62636264
gnomAD v2:
1-197390396-T-C
gnomAD v3:
1-197421266-T-C
gnomAD v4:
1-197421266-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197421266T>C , CM000663.2:g.197421266T>C | GRCh38 |
| NC_000001.10:g.197390396T>C , CM000663.1:g.197390396T>C | GRCh37 |
| NC_000001.9:g.195657019T>C | NCBI36 |
| NG_008483.1:g.157989T>C | |
| NG_008483.2:g.224805T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367400.8:c.1438T>C MANE Select | ENSP00000356370.3:p.Cys480Arg | |
| ENST00000638467.1:c.1438T>C | ENSP00000491102.1:p.Cys480Arg | |
| ENST00000681519.1:c.319T>C | ENSP00000505267.1:p.Cys107Arg | |
| ENST00000367397.1:c.-420T>C | ENSP00000356367.1:n.-420T>C | |
| ENST00000367399.6:c.1102T>C | ENSP00000356369.2:p.Cys368Arg | |
| ENST00000367400.7:c.1438T>C | ENSP00000356370.3:p.Cys480Arg | |
| ENST00000476483.1:n.398T>C | ||
| ENST00000484075.5:c.1438T>C | ENSP00000433932.1:p.Cys480Arg | |
| ENST00000535699.5:c.1231T>C | ENSP00000438786.1:p.Cys411Arg | |
| ENST00000538660.5:c.1438T>C | ENSP00000438091.1:p.Cys480Arg | |
| NM_001193640.1:c.1102T>C | NP_001180569.1:p.Cys368Arg | |
| NM_001257965.1:c.1231T>C | NP_001244894.1:p.Cys411Arg | |
| NM_001257966.1:c.1438T>C | NP_001244895.1:p.Cys480Arg | |
| NM_201253.2:c.1438T>C | NP_957705.1:p.Cys480Arg | |
| NR_047563.1:n.1647T>C | ||
| NR_047564.1:n.1647T>C | ||
| XM_011509365.1:c.1438T>C | XP_011507667.1:p.Cys480Arg | |
| XM_011509366.1:c.1438T>C | XP_011507668.1:p.Cys480Arg | |
| XM_011509367.1:c.1438T>C | XP_011507669.1:p.Cys480Arg | |
| XM_011509368.1:c.856T>C | XP_011507670.1:p.Cys286Arg | |
| XM_011509369.1:c.-120T>C | XP_011507671.1:n.-120T>C | |
| XM_011509365.2:c.1438T>C | XP_011507667.1:p.Cys480Arg | |
| XM_011509369.2:c.-120T>C | XP_011507671.1:n.-120T>C | |
| XM_017000851.1:c.595T>C | XP_016856340.1:p.Cys199Arg | |
| XM_017000852.1:c.1438T>C | XP_016856341.1:p.Cys480Arg | |
| NM_201253.3:c.1438T>C MANE Select | NP_957705.1:p.Cys480Arg | |
| NM_001193640.2:c.1102T>C | NP_001180569.1:p.Cys368Arg | |
| NM_001257965.2:c.1231T>C | NP_001244894.1:p.Cys411Arg | |
| NR_047563.2:n.1599T>C | ||
| NR_047564.2:n.1599T>C | ||
| NM_001257966.2:c.1438T>C | NP_001244895.1:p.Cys480Arg |