Linked Data
ClinVar Variation Id:
130533
dbSNP Id:
rs17188183
ExAC:
1:210334081 T / C
gnomAD v2:
1-210334081-T-C
gnomAD v3:
1-210160736-T-C
gnomAD v4:
1-210160736-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.210160736T>C , CM000663.2:g.210160736T>C | GRCh38 |
| NC_000001.10:g.210334081T>C , CM000663.1:g.210334081T>C | GRCh37 |
| NC_000001.9:g.208400704T>C | NCBI36 |
| NG_031962.1:g.227563T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367019.6:c.1419T>C MANE Select | ENSP00000355986.1:p.Tyr473= | |
| ENST00000699295.1:c.2232T>C | ENSP00000514275.1:p.Tyr744= | |
| ENST00000637265.1:c.2289T>C | ENSP00000489897.1:p.Tyr763= | |
| ENST00000637945.1:c.*1279T>C | ENSP00000489671.1:n.*1279T>C | |
| ENST00000367015.5:c.1248T>C | ENSP00000355982.1:p.Tyr416= | |
| ENST00000367019.5:c.1419T>C | ENSP00000355986.1:p.Tyr473= | |
| ENST00000399639.6:c.*179T>C | ENSP00000445837.2:n.*179T>C | |
| ENST00000472886.5:c.1362T>C | ENSP00000418901.1:p.Tyr454= | |
| ENST00000534859.2:c.1207T>C | ||
| ENST00000537238.5:c.1248T>C | ENSP00000437423.1:p.Tyr416= | |
| ENST00000629778.2:c.1554T>C | ENSP00000486230.1:p.Tyr518= | |
| NM_001146261.2:c.1554T>C | NP_001139733.1:p.Tyr518= | |
| NM_001146262.2:c.1419T>C | NP_001139734.1:p.Tyr473= | |
| NM_001146264.2:c.1497T>C | NP_001139736.1:p.Tyr499= | |
| NM_001256006.1:c.1248T>C | NP_001242935.1:p.Tyr416= | |
| NM_153262.3:c.1362T>C | NP_694994.2:p.Tyr454= | |
| NR_027459.2:n.1387T>C | ||
| XM_006711262.2:c.2289T>C | XP_006711325.1:p.Tyr763= | |
| XM_011509388.1:c.2289T>C | XP_011507690.1:p.Tyr763= | |
| XM_011509389.1:c.2232T>C | XP_011507691.1:p.Tyr744= | |
| XM_006711262.3:c.2289T>C | XP_006711325.1:p.Tyr763= | |
| XM_017000931.1:c.2232T>C | XP_016856420.1:p.Tyr744= | |
| XM_017000932.2:c.1305T>C | XP_016856421.1:p.Tyr435= | |
| XM_017000933.2:c.1305T>C | XP_016856422.1:p.Tyr435= | |
| XM_017000934.2:c.1305T>C | XP_016856423.1:p.Tyr435= | |
| XM_017000935.2:c.711T>C | XP_016856424.1:p.Tyr237= | |
| NM_001146262.3:c.1419T>C | NP_001139734.1:p.Tyr473= | |
| NM_001146264.3:c.1497T>C | NP_001139736.1:p.Tyr499= | |
| NM_153262.4:c.1362T>C | NP_694994.2:p.Tyr454= | |
| NR_027459.3:n.1344T>C | ||
| NM_001146261.3:c.1554T>C | NP_001139733.1:p.Tyr518= | |
| NM_001256006.2:c.1248T>C | NP_001242935.1:p.Tyr416= | |
| NM_001146261.4:c.1554T>C | NP_001139733.1:p.Tyr518= | |
| NM_001146262.4:c.1419T>C MANE Select | NP_001139734.1:p.Tyr473= | |
| NM_001146264.4:c.1497T>C | NP_001139736.1:p.Tyr499= | |
| NM_001256006.3:c.1248T>C | NP_001242935.1:p.Tyr416= | |
| NM_001397544.1:c.2232T>C | NP_001384473.1:p.Tyr744= | |
| NM_001397545.1:c.2232T>C | NP_001384474.1:p.Tyr744= | |
| NM_153262.5:c.1362T>C | NP_694994.2:p.Tyr454= |