Linked Data
ClinVar Variation Id:
1090426
ClinVar RCV Id:
RCV001409603
dbSNP Id:
rs998893595
gnomAD v3:
1-197427692-T-C
gnomAD v4:
1-197427692-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197427692T>C , CM000663.2:g.197427692T>C | GRCh38 |
| NC_000001.10:g.197396822T>C , CM000663.1:g.197396822T>C | GRCh37 |
| NC_000001.9:g.195663445T>C | NCBI36 |
| NG_008483.1:g.164415T>C | |
| NG_008483.2:g.231231T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367400.8:c.2367T>C MANE Select | ENSP00000356370.3:p.Asn789= | |
| ENST00000638467.1:c.2367T>C | ENSP00000491102.1:p.Asn789= | |
| ENST00000681519.1:c.1248T>C | ENSP00000505267.1:p.Asn416= | |
| ENST00000367397.1:c.510T>C | ENSP00000356367.1:p.Asn170= | |
| ENST00000367399.6:c.2031T>C | ENSP00000356369.2:p.Asn677= | |
| ENST00000367400.7:c.2367T>C | ENSP00000356370.3:p.Asn789= | |
| ENST00000480086.2:n.268T>C | ||
| ENST00000484075.5:c.2367T>C | ENSP00000433932.1:p.Asn789= | |
| ENST00000535699.5:c.2160T>C | ENSP00000438786.1:p.Asn720= | |
| ENST00000538660.5:c.2128+5736T>C | ENSP00000438091.1:n.2128+5736T>C | |
| NM_001193640.1:c.2031T>C | NP_001180569.1:p.Asn677= | |
| NM_001257965.1:c.2160T>C | NP_001244894.1:p.Asn720= | |
| NM_001257966.1:c.2128+5736T>C | NP_001244895.1:n.2128+5736T>C | |
| NM_201253.2:c.2367T>C | NP_957705.1:p.Asn789= | |
| NR_047563.1:n.2368T>C | ||
| NR_047564.1:n.2576T>C | ||
| XM_011509365.1:c.2367T>C | XP_011507667.1:p.Asn789= | |
| XM_011509366.1:c.2367T>C | XP_011507668.1:p.Asn789= | |
| XM_011509367.1:c.2367T>C | XP_011507669.1:p.Asn789= | |
| XM_011509368.1:c.1785T>C | XP_011507670.1:p.Asn595= | |
| XM_011509369.1:c.810T>C | XP_011507671.1:p.Asn270= | |
| XM_011509365.2:c.2367T>C | XP_011507667.1:p.Asn789= | |
| XM_011509369.2:c.810T>C | XP_011507671.1:p.Asn270= | |
| XM_017000851.1:c.1524T>C | XP_016856340.1:p.Asn508= | |
| XM_017000852.1:c.2367T>C | XP_016856341.1:p.Asn789= | |
| NM_201253.3:c.2367T>C MANE Select | NP_957705.1:p.Asn789= | |
| NM_001193640.2:c.2031T>C | NP_001180569.1:p.Asn677= | |
| NM_001257965.2:c.2160T>C | NP_001244894.1:p.Asn720= | |
| NR_047563.2:n.2320T>C | ||
| NR_047564.2:n.2528T>C | ||
| NM_001257966.2:c.2128+5736T>C | NP_001244895.1:n.2128+5736T>C |