Linked Data
ClinVar Variation Id:
392692
dbSNP Id:
rs374052426
ExAC:
10:97370000 G / A
gnomAD v2:
10-97370000-G-A
gnomAD v3:
10-95610243-G-A
gnomAD v4:
10-95610243-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.95610243G>A , CM000672.2:g.95610243G>A | GRCh38 |
| NC_000010.10:g.97370000G>A , CM000672.1:g.97370000G>A | GRCh37 |
| NC_000010.9:g.97359990G>A | NCBI36 |
| NG_012258.1:g.51568C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371224.7:c.2160C>T MANE Select | ENSP00000360268.2:p.Phe720= | |
| ENST00000371221.3:c.2154C>T | ENSP00000360265.3:p.Phe718= | |
| ENST00000371224.6:c.2160C>T | ENSP00000360268.2:p.Phe720= | |
| NM_001017423.1:c.2154C>T | NP_001017423.1:p.Phe718= | |
| NM_002860.3:c.2160C>T | NP_002851.2:p.Phe720= | |
| XM_006717933.1:c.2160C>T | XP_006717996.1:p.Phe720= | |
| XM_011540001.1:c.1827C>T | XP_011538303.1:p.Phe609= | |
| NM_001323412.1:c.1827C>T | NP_001310341.1:p.Phe609= | |
| NM_001323413.1:c.2160C>T | NP_001310342.1:p.Phe720= | |
| NM_001323414.1:c.2160C>T | NP_001310343.1:p.Phe720= | |
| NM_001323415.1:c.2154C>T | NP_001310344.1:p.Phe718= | |
| NM_001323416.1:c.1827C>T | NP_001310345.1:p.Phe609= | |
| NM_001323417.1:c.2055C>T | NP_001310346.1:p.Phe685= | |
| NM_001323418.1:c.1821C>T | NP_001310347.1:p.Phe607= | |
| NM_001323419.1:c.1524C>T | NP_001310348.1:p.Phe508= | |
| XM_024448094.1:c.2262C>T | XP_024303862.1:p.Phe754= | |
| XM_024448095.1:c.2262C>T | XP_024303863.1:p.Phe754= | |
| XM_024448096.1:c.2256C>T | XP_024303864.1:p.Phe752= | |
| XM_024448097.1:c.1929C>T | XP_024303865.1:p.Phe643= | |
| NM_002860.4:c.2160C>T MANE Select | NP_002851.2:p.Phe720= | |
| NM_001017423.2:c.2154C>T | NP_001017423.1:p.Phe718= | |
| NM_001323412.2:c.1827C>T | NP_001310341.1:p.Phe609= | |
| NM_001323413.2:c.2160C>T | NP_001310342.1:p.Phe720= | |
| NM_001323414.2:c.2160C>T | NP_001310343.1:p.Phe720= | |
| NM_001323415.2:c.2154C>T | NP_001310344.1:p.Phe718= | |
| NM_001323416.2:c.1827C>T | NP_001310345.1:p.Phe609= | |
| NM_001323417.2:c.2055C>T | NP_001310346.1:p.Phe685= | |
| NM_001323418.2:c.1821C>T | NP_001310347.1:p.Phe607= | |
| NM_001323419.2:c.1524C>T | NP_001310348.1:p.Phe508= |