Linked Data
ClinVar Variation Id:
129211
dbSNP Id:
rs6923864
ExAC:
6:146755515 T / G
gnomAD v2:
6-146755515-T-G
gnomAD v3:
6-146434379-T-G
gnomAD v4:
6-146434379-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.146434379T>G , CM000668.2:g.146434379T>G | GRCh38 |
| NC_000006.11:g.146755515T>G , CM000668.1:g.146755515T>G | GRCh37 |
| NC_000006.10:g.146797208T>G | NCBI36 |
| NG_012839.1:g.411734T>G | |
| NG_012839.2:g.411734T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000706833.1:c.3168T>G | ENSP00000516579.1:p.Gly1056= | |
| ENST00000706834.1:c.*497T>G | ENSP00000516580.1:n.*497T>G | |
| ENST00000706835.1:c.3168T>G | ENSP00000516581.1:p.Gly1056= | |
| ENST00000706836.1:c.*532T>G | ENSP00000516582.1:n.*532T>G | |
| ENST00000282753.6:c.3168T>G MANE Select | ENSP00000282753.1:p.Gly1056= | |
| ENST00000282753.5:c.3168T>G | ENSP00000282753.1:p.Gly1056= | |
| ENST00000355289.8:c.*406T>G | ENSP00000347437.4:n.*406T>G | |
| ENST00000361719.6:c.3168T>G | ENSP00000354896.2:p.Gly1056= | |
| ENST00000492807.6:c.*532T>G | ENSP00000424095.1:n.*532T>G | |
| ENST00000507907.1:c.*497T>G | ENSP00000425599.1:n.*497T>G | |
| NM_001278064.1:c.3168T>G | NP_001264993.1:p.Gly1056= | |
| NM_001278065.1:c.*532T>G | NP_001264994.1:n.*532T>G | |
| NM_001278066.1:c.*497T>G | NP_001264995.1:n.*497T>G | |
| NM_001278067.1:c.*406T>G | NP_001264996.1:n.*406T>G | |
| XM_011535782.1:c.3168T>G | XP_011534084.1:p.Gly1056= | |
| XM_011535783.1:c.3168T>G | XP_011534085.1:p.Gly1056= | |
| XM_011535784.1:c.3168T>G | XP_011534086.1:p.Gly1056= | |
| XM_017010783.1:c.3168T>G | XP_016866272.1:p.Gly1056= | |
| XM_017010784.1:c.3168T>G | XP_016866273.1:p.Gly1056= | |
| XM_017010785.1:c.*532T>G | XP_016866274.1:n.*532T>G | |
| XM_017010786.1:c.*497T>G | XP_016866275.1:n.*497T>G | |
| XM_017010787.1:c.*497T>G | XP_016866276.1:n.*497T>G | |
| XM_017010788.1:c.1941T>G | XP_016866277.1:p.Gly647= | |
| XM_024446412.1:c.*532T>G | XP_024302180.1:n.*532T>G | |
| NM_001278064.2:c.3168T>G MANE Select | NP_001264993.1:p.Gly1056= | |
| NM_001278065.2:c.*532T>G | NP_001264994.1:n.*532T>G |