Linked Data
ClinVar Variation Id:
2230336
ClinVar RCV Id:
RCV002702777
dbSNP Id:
rs747069460
ExAC:
17:1631441 G / T
gnomAD v2:
17-1631441-G-T
gnomAD v3:
17-1728147-G-T
gnomAD v4:
17-1728147-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.1728147G>T , CM000679.2:g.1728147G>T | GRCh38 |
| NC_000017.10:g.1631441G>T , CM000679.1:g.1631441G>T | GRCh37 |
| NC_000017.9:g.1578191G>T | NCBI36 |
| NG_032811.1:g.16625G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409644.6:c.3188G>T MANE Select | ENSP00000386609.1:p.Gly1063Val | |
| ENST00000309182.9:c.35G>T | ENSP00000312074.5:p.Gly12Val | |
| ENST00000409644.5:c.3188G>T | ENSP00000386609.1:p.Gly1063Val | |
| ENST00000418841.5:c.-89+3361G>T | ENSP00000395198.1:n.-89+3361G>T | |
| ENST00000419248.5:c.-14-2233G>T | ENSP00000407845.1:n.-14-2233G>T | |
| ENST00000437219.6:c.59-2233G>T | ENSP00000391074.2:n.59-2233G>T | |
| ENST00000446363.5:c.-308-2608G>T | ENSP00000401560.1:n.-308-2608G>T | |
| ENST00000455636.5:c.59-2233G>T | ENSP00000395226.1:n.59-2233G>T | |
| ENST00000464528.5:n.574G>T | ||
| ENST00000468539.5:c.63-4178G>T | ENSP00000460742.1:n.63-4178G>T | |
| ENST00000492901.1:n.88-2233G>T | ||
| NM_001163673.1:c.59-2233G>T | NP_001157145.1:n.59-2233G>T | |
| NM_001163809.1:c.3188G>T | NP_001157281.1:p.Gly1063Val | |
| NM_001163811.1:c.-14-2233G>T | NP_001157283.1:n.-14-2233G>T | |
| NM_152348.3:c.35G>T | NP_689561.2:p.Gly12Val | |
| XM_005256454.2:c.3188G>T | XP_005256511.1:p.Gly1063Val | |
| XM_011523650.1:c.3188G>T | XP_011521952.1:p.Gly1063Val | |
| XM_011523651.1:c.35G>T | XP_011521953.1:p.Gly12Val | |
| XR_933973.1:n.3332G>T | ||
| XM_011523651.2:c.35G>T | XP_011521953.1:p.Gly12Val | |
| XM_017024184.1:c.3188G>T | XP_016879673.1:p.Gly1063Val | |
| XR_001752427.1:n.3340G>T | ||
| XR_933973.2:n.3340G>T | ||
| NM_001163809.2:c.3188G>T MANE Select | NP_001157281.1:p.Gly1063Val | |
| NM_001163811.2:c.-14-2233G>T | NP_001157283.1:n.-14-2233G>T | |
| NM_152348.4:c.35G>T | NP_689561.2:p.Gly12Val | |
| NM_001163673.2:c.59-2233G>T | NP_001157145.1:n.59-2233G>T |