Linked Data
ClinVar Variation Id:
161227
ClinVar RCV Id:
RCV000148479
RCV000215521
RCV000460497
RCV000677333
RCV000766884
RCV000764660
RCV001192114
RCV001332447
RCV003998168
dbSNP Id:
rs34738426
ExAC:
6:7581747 G / T
gnomAD v2:
6-7581747-G-T
gnomAD v3:
6-7581514-G-T
gnomAD v4:
6-7581514-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.7581514G>T , CM000668.2:g.7581514G>T | GRCh38 |
| NC_000006.11:g.7581747G>T , CM000668.1:g.7581747G>T | GRCh37 |
| NC_000006.10:g.7526746G>T | NCBI36 |
| NG_008803.1:g.44878G>T , LRG_423:g.44878G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710359.1:c.4051-1128G>T | ENSP00000518230.1:n.4051-1128G>T | |
| ENST00000379802.8:c.5324G>T MANE Select | ENSP00000369129.3:p.Arg1775Ile | |
| ENST00000379802.7:c.5324G>T | ENSP00000369129.3:p.Arg1775Ile | |
| ENST00000418664.2:c.3583-1128G>T | ENSP00000396591.2:n.3583-1128G>T | |
| NM_001008844.1:c.3583-1128G>T | NP_001008844.1:n.3583-1128G>T | |
| NM_004415.2:c.5324G>T , LRG_423t1:c.5324G>T | NP_004406.2:p.Arg1775Ile | |
| XM_011514323.1:c.4051-1128G>T | XP_011512625.1:n.4051-1128G>T | |
| NM_001008844.2:c.3583-1128G>T | NP_001008844.1:n.3583-1128G>T | |
| NM_001319034.1:c.4051-1128G>T | NP_001305963.1:n.4051-1128G>T | |
| NM_004415.3:c.5324G>T | NP_004406.2:p.Arg1775Ile | |
| NM_004415.4:c.5324G>T MANE Select | NP_004406.2:p.Arg1775Ile | |
| NM_001008844.3:c.3583-1128G>T | NP_001008844.1:n.3583-1128G>T | |
| NM_001319034.2:c.4051-1128G>T | NP_001305963.1:n.4051-1128G>T |