Linked Data
ClinVar Variation Id:
487609
ClinVar RCV Id:
RCV000656183
dbSNP Id:
rs375981026
gnomAD v2:
6-112493944-C-A
gnomAD v4:
6-112172742-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.112172742C>A , CM000668.2:g.112172742C>A | GRCh38 |
| NC_000006.11:g.112493944C>A , CM000668.1:g.112493944C>A | GRCh37 |
| NC_000006.10:g.112600637C>A | NCBI36 |
| NG_008209.1:g.86885G>T , LRG_433:g.86885G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230538.12:c.1420G>T MANE Select | ENSP00000230538.7:p.Val474Phe | |
| ENST00000389463.9:c.1399G>T | ENSP00000374114.4:p.Val467Phe | |
| ENST00000230538.11:c.1420G>T | ENSP00000230538.7:p.Val474Phe | |
| ENST00000389463.8:c.1399G>T | ENSP00000374114.4:p.Val467Phe | |
| ENST00000424408.6:c.1399G>T | ENSP00000416470.2:p.Val467Phe | |
| ENST00000521187.1:n.1613G>T | ||
| ENST00000522006.5:c.1399G>T | ENSP00000429488.1:p.Val467Phe | |
| NM_001105206.2:c.1420G>T | NP_001098676.2:p.Val474Phe | |
| NM_001105207.2:c.1399G>T | NP_001098677.2:p.Val467Phe | |
| NM_002290.4:c.1399G>T | NP_002281.3:p.Val467Phe | |
| XM_005266983.3:c.1420G>T | XP_005267040.2:p.Val474Phe | |
| XM_005266984.3:c.1420G>T | XP_005267041.2:p.Val474Phe | |
| XM_011535821.1:c.1420G>T | XP_011534123.1:p.Val474Phe | |
| XM_005266983.4:c.1420G>T | XP_005267040.2:p.Val474Phe | |
| XM_005266984.4:c.1420G>T | XP_005267041.2:p.Val474Phe | |
| XM_017010854.2:c.1399G>T | XP_016866343.1:p.Val467Phe | |
| XR_001743406.2:n.1691G>T | ||
| XR_001743407.2:n.1670G>T | ||
| NM_001105206.3:c.1420G>T MANE Select | NP_001098676.2:p.Val474Phe | |
| NM_001105207.3:c.1399G>T | NP_001098677.2:p.Val467Phe | |
| NM_002290.5:c.1399G>T | NP_002281.3:p.Val467Phe |