Linked Data
ClinVar Variation Id:
416276
ClinVar RCV Id:
RCV001157052
RCV001157053
RCV001157054
RCV001821371
RCV002525684
RCV002257755
RCV002418476
RCV003431033
RCV004541497
dbSNP Id:
rs778496417
ExAC:
5:1279562 C / T
gnomAD v2:
5-1279562-C-T
gnomAD v3:
5-1279447-C-T
gnomAD v4:
5-1279447-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1279447C>T , CM000667.2:g.1279447C>T | GRCh38 |
| NC_000005.9:g.1279562C>T , CM000667.1:g.1279562C>T | GRCh37 |
| NC_000005.8:g.1332562C>T | NCBI36 |
| NG_009265.1:g.20601G>A , LRG_343:g.20601G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310581.10:c.1974G>A MANE Select | ENSP00000309572.5:p.Val658= | |
| ENST00000656021.1:c.*1520G>A | ENSP00000499759.1:n.*1520G>A | |
| ENST00000310581.9:c.1974G>A | ENSP00000309572.5:p.Val658= | |
| ENST00000334602.10:c.1974G>A | ENSP00000334346.6:p.Val658= | |
| ENST00000460137.6:c.1974G>A | ENSP00000425003.1:p.Val658= | |
| ENST00000484238.6:n.787G>A | ||
| ENST00000508104.2:c.1974G>A | ENSP00000426042.2:p.Val658= | |
| NM_001193376.1:c.1974G>A | NP_001180305.1:p.Val658= | |
| NM_198253.2:c.1974G>A , LRG_343t1:c.1974G>A | NP_937983.2:p.Val658= | |
| XM_011514104.1:c.444G>A | XP_011512406.1:p.Val148= | |
| XM_011514105.1:c.330G>A | XP_011512407.1:p.Val110= | |
| XM_011514106.1:c.330G>A | XP_011512408.1:p.Val110= | |
| NR_149162.1:n.2032G>A | ||
| NR_149163.1:n.2032G>A | ||
| NM_001193376.2:c.1974G>A | NP_001180305.1:p.Val658= | |
| NM_198253.3:c.1974G>A MANE Select | NP_937983.2:p.Val658= | |
| NR_149162.2:n.2053G>A | ||
| NR_149163.2:n.2053G>A | ||
| NM_001193376.3:c.1974G>A | NP_001180305.1:p.Val658= | |
| NR_149162.3:n.2053G>A | ||
| NR_149163.3:n.2053G>A |