Linked Data
ClinVar Variation Id:
2067829
dbSNP Id:
rs144159139
ExAC:
2:24443841 G / A
gnomAD v2:
2-24443841-G-A
gnomAD v3:
2-24220972-G-A
gnomAD v4:
2-24220972-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.24220972G>A , CM000664.2:g.24220972G>A | GRCh38 |
| NC_000002.11:g.24443841G>A , CM000664.1:g.24443841G>A | GRCh37 |
| NC_000002.10:g.24297345G>A | NCBI36 |
| NG_029516.1:g.144557C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355123.9:c.3672C>T MANE Select | ENSP00000347244.4:p.Tyr1224= | |
| ENST00000355123.8:c.3672C>T | ENSP00000347244.4:p.Tyr1224= | |
| ENST00000361999.7:c.3591C>T | ENSP00000354561.2:p.Tyr1197= | |
| ENST00000406921.7:c.3672C>T | ENSP00000384499.3:p.Tyr1224= | |
| ENST00000622089.4:c.3621C>T | ENSP00000479408.1:p.Tyr1207= | |
| NM_006277.2:c.3672C>T | NP_006268.2:p.Tyr1224= | |
| NM_019595.3:c.3591C>T | NP_062541.3:p.Tyr1197= | |
| NM_147152.2:c.3672C>T | NP_671494.2:p.Tyr1224= | |
| NM_001348181.1:c.3630C>T | NP_001335110.1:p.Tyr1210= | |
| NM_001348182.1:c.3552C>T | NP_001335111.1:p.Tyr1184= | |
| XM_024452930.1:c.3672C>T | XP_024308698.1:p.Tyr1224= | |
| XM_024452931.1:c.3672C>T | XP_024308699.1:p.Tyr1224= | |
| XM_024452932.1:c.3630C>T | XP_024308700.1:p.Tyr1210= | |
| XM_024452933.1:c.3633C>T | XP_024308701.1:p.Tyr1211= | |
| XM_024452934.1:c.3591C>T | XP_024308702.1:p.Tyr1197= | |
| XM_024452935.1:c.3549C>T | XP_024308703.1:p.Tyr1183= | |
| XM_024452937.1:c.1368C>T | XP_024308705.1:p.Tyr456= | |
| XR_002959302.1:n.3660C>T | ||
| NM_001348181.2:c.3630C>T | NP_001335110.1:p.Tyr1210= | |
| NM_001348182.2:c.3552C>T | NP_001335111.1:p.Tyr1184= | |
| NM_006277.3:c.3672C>T MANE Select | NP_006268.2:p.Tyr1224= | |
| NM_019595.4:c.3591C>T | NP_062541.3:p.Tyr1197= | |
| NM_147152.3:c.3672C>T | NP_671494.2:p.Tyr1224= |