Linked Data
ClinVar Variation Id:
767004
ClinVar RCV Id:
RCV000945630
dbSNP Id:
rs201334941
ExAC:
2:128398463 G / A
gnomAD v2:
2-128398463-G-A
gnomAD v3:
2-127640888-G-A
gnomAD v4:
2-127640888-G-A
COSMIC:
COSM237663
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.127640888G>A , CM000664.2:g.127640888G>A | GRCh38 |
| NC_000002.11:g.128398463G>A , CM000664.1:g.128398463G>A | GRCh37 |
| NC_000002.10:g.128114933G>A | NCBI36 |
| NG_042235.1:g.45899C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355119.9:c.753+8C>T MANE Select | ENSP00000347240.4:n.753+8C>T | |
| ENST00000324938.9:c.825+8C>T | ENSP00000326888.5:n.825+8C>T | |
| ENST00000355119.8:c.753+8C>T | ENSP00000347240.4:n.753+8C>T | |
| ENST00000409254.1:c.297+8C>T | ENSP00000386907.1:n.297+8C>T | |
| ENST00000409286.5:c.297+8C>T | ENSP00000386252.1:n.297+8C>T | |
| ENST00000409455.5:c.738+8C>T | ENSP00000386383.1:n.738+8C>T | |
| ENST00000409754.5:c.297+8C>T | ENSP00000386345.1:n.297+8C>T | |
| ENST00000409808.6:c.738+8C>T | ENSP00000386637.2:n.738+8C>T | |
| ENST00000410011.5:c.738+8C>T | ENSP00000387002.1:n.738+8C>T | |
| ENST00000410038.5:c.297+8C>T | ENSP00000386570.1:n.297+8C>T | |
| ENST00000413578.5:c.146+8C>T | ENSP00000388611.1:n.146+8C>T | |
| ENST00000426981.5:c.236+8C>T | ||
| ENST00000466410.5:n.897C>T | ||
| ENST00000469300.6:n.3554+8C>T | ||
| ENST00000476932.5:n.1141+8C>T | ||
| ENST00000484252.5:n.404C>T | ||
| ENST00000545738.6:c.819+8C>T | ENSP00000443794.2:n.819+8C>T | |
| ENST00000612860.4:c.477+8C>T | ENSP00000484949.1:n.477+8C>T | |
| NM_001136037.2:c.819+8C>T | NP_001129509.2:n.819+8C>T | |
| NM_001161403.1:c.753+8C>T | NP_001154875.1:n.753+8C>T | |
| NM_001161404.1:c.738+8C>T | NP_001154876.1:n.738+8C>T | |
| NM_001256542.1:c.297+8C>T | NP_001243471.1:n.297+8C>T | |
| NM_017980.4:c.825+8C>T | NP_060450.2:n.825+8C>T | |
| XM_005263709.2:c.738+8C>T | XP_005263766.1:n.738+8C>T | |
| XM_005263710.2:c.546+8C>T | XP_005263767.1:n.546+8C>T | |
| XM_006712627.2:c.405+8C>T | XP_006712690.1:n.405+8C>T | |
| XM_011511453.1:c.674+8C>T | XP_011509755.1:n.674+8C>T | |
| XR_922961.1:n.889+8C>T | ||
| XM_006712627.4:c.405+8C>T | XP_006712690.1:n.405+8C>T | |
| XM_017004469.1:c.416+8C>T | XP_016859958.1:n.416+8C>T | |
| XM_024452983.1:c.738+8C>T | XP_024308751.1:n.738+8C>T | |
| XM_024452984.1:c.738+8C>T | XP_024308752.1:n.738+8C>T | |
| XM_024452985.1:c.297+8C>T | XP_024308753.1:n.297+8C>T | |
| XM_024452986.1:c.297+8C>T | XP_024308754.1:n.297+8C>T | |
| XR_922961.2:n.889+8C>T | ||
| NM_001136037.3:c.819+8C>T | NP_001129509.2:n.819+8C>T | |
| NM_001161403.2:c.753+8C>T | NP_001154875.1:n.753+8C>T | |
| NM_001136037.4:c.819+8C>T | NP_001129509.2:n.819+8C>T | |
| NM_001161403.3:c.753+8C>T MANE Select | NP_001154875.1:n.753+8C>T | |
| NM_001161404.2:c.738+8C>T | NP_001154876.1:n.738+8C>T | |
| NM_001256542.2:c.297+8C>T | NP_001243471.1:n.297+8C>T | |
| NM_017980.5:c.825+8C>T | NP_060450.2:n.825+8C>T |