Linked Data
ClinVar Variation Id:
289978
dbSNP Id:
rs373896034
ExAC:
6:51523801 A / G
gnomAD v2:
6-51523801-A-G
gnomAD v3:
6-51659003-A-G
gnomAD v4:
6-51659003-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.51659003A>G , CM000668.2:g.51659003A>G | GRCh38 |
| NC_000006.11:g.51523801A>G , CM000668.1:g.51523801A>G | GRCh37 |
| NC_000006.10:g.51631760A>G | NCBI36 |
| NG_008753.1:g.433623T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371117.8:c.11123T>C MANE Select | ENSP00000360158.3:p.Met3708Thr | |
| ENST00000371117.7:c.11123T>C | ENSP00000360158.3:p.Met3708Thr | |
| NM_138694.3:c.11123T>C | NP_619639.3:p.Met3708Thr | |
| XM_011514679.1:c.11123T>C | XP_011512981.1:p.Met3708Thr | |
| XM_011514680.1:c.11123T>C | XP_011512982.1:p.Met3708Thr | |
| XM_011514681.1:c.10994T>C | XP_011512983.1:p.Met3665Thr | |
| XM_011514682.1:c.10985T>C | XP_011512984.1:p.Met3662Thr | |
| XM_011514683.1:c.10481T>C | XP_011512985.1:p.Met3494Thr | |
| XM_011514684.1:c.10412T>C | XP_011512986.1:p.Met3471Thr | |
| XM_011514687.1:c.10157-9783T>C | XP_011512989.1:n.10157-9783T>C | |
| XM_011514690.1:c.5198T>C | XP_011512992.1:p.Met1733Thr | |
| XM_011514691.1:c.5198T>C | XP_011512993.1:p.Met1733Thr | |
| XR_926870.1:n.535+6630A>G | ||
| XR_926871.1:n.403+6630A>G | ||
| XR_926872.1:n.535+6630A>G | ||
| XM_011514680.3:c.11123T>C | XP_011512982.1:p.Met3708Thr | |
| XM_011514682.3:c.10985T>C | XP_011512984.1:p.Met3662Thr | |
| XM_011514683.3:c.10481T>C | XP_011512985.1:p.Met3494Thr | |
| XM_011514684.3:c.10412T>C | XP_011512986.1:p.Met3471Thr | |
| XM_011514690.3:c.5198T>C | XP_011512992.1:p.Met1733Thr | |
| XM_011514691.3:c.5198T>C | XP_011512993.1:p.Met1733Thr | |
| XM_017010944.2:c.11123T>C | XP_016866433.1:p.Met3708Thr | |
| XM_017010945.2:c.11048T>C | XP_016866434.1:p.Met3683Thr | |
| XM_017010946.2:c.10928T>C | XP_016866435.1:p.Met3643Thr | |
| XM_017010947.2:c.10859T>C | XP_016866436.1:p.Met3620Thr | |
| XM_017010948.2:c.10412T>C | XP_016866437.1:p.Met3471Thr | |
| XM_017010949.2:c.9263T>C | XP_016866438.1:p.Met3088Thr | |
| XR_001743469.1:n.11399T>C | ||
| XR_001744157.1:n.3145+6630A>G | ||
| XR_926870.2:n.3145+6630A>G | ||
| XR_926871.2:n.3013+6630A>G | ||
| XR_926872.2:n.3145+6630A>G | ||
| NM_138694.4:c.11123T>C MANE Select | NP_619639.3:p.Met3708Thr |