Linked Data
ClinVar Variation Id:
392664
dbSNP Id:
rs758543218
ExAC:
10:97392770 G / A
gnomAD v2:
10-97392770-G-A
gnomAD v4:
10-95633013-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.95633013G>A , CM000672.2:g.95633013G>A | GRCh38 |
| NC_000010.10:g.97392770G>A , CM000672.1:g.97392770G>A | GRCh37 |
| NC_000010.9:g.97382760G>A | NCBI36 |
| NG_012258.1:g.28798C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371224.7:c.754C>T MANE Select | ENSP00000360268.2:p.Arg252Ter | |
| ENST00000371221.3:c.748C>T | ENSP00000360265.3:p.Arg250Ter | |
| ENST00000371224.6:c.754C>T | ENSP00000360268.2:p.Arg252Ter | |
| NM_001017423.1:c.748C>T | NP_001017423.1:p.Arg250Ter | |
| NM_002860.3:c.754C>T | NP_002851.2:p.Arg252Ter | |
| XM_006717933.1:c.754C>T | XP_006717996.1:p.Arg252Ter | |
| XM_011540001.1:c.421C>T | XP_011538303.1:p.Arg141Ter | |
| NM_001323412.1:c.421C>T | NP_001310341.1:p.Arg141Ter | |
| NM_001323413.1:c.754C>T | NP_001310342.1:p.Arg252Ter | |
| NM_001323414.1:c.754C>T | NP_001310343.1:p.Arg252Ter | |
| NM_001323415.1:c.748C>T | NP_001310344.1:p.Arg250Ter | |
| NM_001323416.1:c.421C>T | NP_001310345.1:p.Arg141Ter | |
| NM_001323417.1:c.649C>T | NP_001310346.1:p.Arg217Ter | |
| NM_001323418.1:c.415C>T | NP_001310347.1:p.Arg139Ter | |
| NM_001323419.1:c.118C>T | NP_001310348.1:p.Arg40Ter | |
| XM_024448094.1:c.754C>T | XP_024303862.1:p.Arg252Ter | |
| XM_024448095.1:c.754C>T | XP_024303863.1:p.Arg252Ter | |
| XM_024448096.1:c.748C>T | XP_024303864.1:p.Arg250Ter | |
| XM_024448097.1:c.421C>T | XP_024303865.1:p.Arg141Ter | |
| NM_002860.4:c.754C>T MANE Select | NP_002851.2:p.Arg252Ter | |
| NM_001017423.2:c.748C>T | NP_001017423.1:p.Arg250Ter | |
| NM_001323412.2:c.421C>T | NP_001310341.1:p.Arg141Ter | |
| NM_001323413.2:c.754C>T | NP_001310342.1:p.Arg252Ter | |
| NM_001323414.2:c.754C>T | NP_001310343.1:p.Arg252Ter | |
| NM_001323415.2:c.748C>T | NP_001310344.1:p.Arg250Ter | |
| NM_001323416.2:c.421C>T | NP_001310345.1:p.Arg141Ter | |
| NM_001323417.2:c.649C>T | NP_001310346.1:p.Arg217Ter | |
| NM_001323418.2:c.415C>T | NP_001310347.1:p.Arg139Ter | |
| NM_001323419.2:c.118C>T | NP_001310348.1:p.Arg40Ter |