Linked Data
ClinVar Variation Id:
427863
ClinVar RCV Id:
RCV000515691
RCV000986493
RCV001250609
RCV001389640
RCV001836643
RCV003987563
RCV003449270
dbSNP Id:
rs62645747
gnomAD v4:
1-197429614-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197429614T>C , CM000663.2:g.197429614T>C | GRCh38 |
| NC_000001.10:g.197398744T>C , CM000663.1:g.197398744T>C | GRCh37 |
| NC_000001.9:g.195665367T>C | NCBI36 |
| NG_008483.1:g.166337T>C | |
| NG_008483.2:g.233153T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367400.8:c.2842T>C MANE Select | ENSP00000356370.3:p.Cys948Arg | |
| ENST00000638467.1:c.2842T>C | ENSP00000491102.1:p.Cys948Arg | |
| ENST00000681519.1:c.1723T>C | ENSP00000505267.1:p.Cys575Arg | |
| ENST00000367397.1:c.985T>C | ENSP00000356367.1:p.Cys329Arg | |
| ENST00000367399.6:c.2506T>C | ENSP00000356369.2:p.Cys836Arg | |
| ENST00000367400.7:c.2842T>C | ENSP00000356370.3:p.Cys948Arg | |
| ENST00000484075.5:c.2842T>C | ENSP00000433932.1:p.Cys948Arg | |
| ENST00000535699.5:c.2770T>C | ENSP00000438786.1:p.Cys924Arg | |
| ENST00000538660.5:c.2129-5986T>C | ENSP00000438091.1:n.2129-5986T>C | |
| NM_001193640.1:c.2506T>C | NP_001180569.1:p.Cys836Arg | |
| NM_001257965.1:c.2770T>C | NP_001244894.1:p.Cys924Arg | |
| NM_001257966.1:c.2129-5986T>C | NP_001244895.1:n.2129-5986T>C | |
| NM_201253.2:c.2842T>C | NP_957705.1:p.Cys948Arg | |
| NR_047563.1:n.2843T>C | ||
| NR_047564.1:n.3051T>C | ||
| XM_011509365.1:c.2842T>C | XP_011507667.1:p.Cys948Arg | |
| XM_011509366.1:c.2842T>C | XP_011507668.1:p.Cys948Arg | |
| XM_011509367.1:c.2842T>C | XP_011507669.1:p.Cys948Arg | |
| XM_011509368.1:c.2260T>C | XP_011507670.1:p.Cys754Arg | |
| XM_011509369.1:c.1285T>C | XP_011507671.1:p.Cys429Arg | |
| XM_011509365.2:c.2842T>C | XP_011507667.1:p.Cys948Arg | |
| XM_011509369.2:c.1285T>C | XP_011507671.1:p.Cys429Arg | |
| XM_017000851.1:c.1999T>C | XP_016856340.1:p.Cys667Arg | |
| XM_017000852.1:c.2977T>C | XP_016856341.1:p.Cys993Arg | |
| NM_201253.3:c.2842T>C MANE Select | NP_957705.1:p.Cys948Arg | |
| NM_001193640.2:c.2506T>C | NP_001180569.1:p.Cys836Arg | |
| NM_001257965.2:c.2770T>C | NP_001244894.1:p.Cys924Arg | |
| NR_047563.2:n.2795T>C | ||
| NR_047564.2:n.3003T>C | ||
| NM_001257966.2:c.2129-5986T>C | NP_001244895.1:n.2129-5986T>C |