Linked Data
ClinVar Variation Id:
212400
dbSNP Id:
rs797046042
gnomAD v2:
5-1279546-C-G
gnomAD v4:
5-1279431-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1279431C>G , CM000667.2:g.1279431C>G | GRCh38 |
| NC_000005.9:g.1279546C>G , CM000667.1:g.1279546C>G | GRCh37 |
| NC_000005.8:g.1332546C>G | NCBI36 |
| NG_009265.1:g.20617G>C , LRG_343:g.20617G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310581.10:c.1990G>C MANE Select | ENSP00000309572.5:p.Val664Leu | |
| ENST00000656021.1:c.*1536G>C | ENSP00000499759.1:n.*1536G>C | |
| ENST00000310581.9:c.1990G>C | ENSP00000309572.5:p.Val664Leu | |
| ENST00000334602.10:c.1990G>C | ENSP00000334346.6:p.Val664Leu | |
| ENST00000460137.6:c.1990G>C | ENSP00000425003.1:p.Val664Leu | |
| ENST00000484238.6:n.803G>C | ||
| ENST00000508104.2:c.1990G>C | ENSP00000426042.2:p.Val664Leu | |
| NM_001193376.1:c.1990G>C | NP_001180305.1:p.Val664Leu | |
| NM_198253.2:c.1990G>C , LRG_343t1:c.1990G>C | NP_937983.2:p.Val664Leu | |
| XM_011514104.1:c.460G>C | XP_011512406.1:p.Val154Leu | |
| XM_011514105.1:c.346G>C | XP_011512407.1:p.Val116Leu | |
| XM_011514106.1:c.346G>C | XP_011512408.1:p.Val116Leu | |
| NR_149162.1:n.2048G>C | ||
| NR_149163.1:n.2048G>C | ||
| NM_001193376.2:c.1990G>C | NP_001180305.1:p.Val664Leu | |
| NM_198253.3:c.1990G>C MANE Select | NP_937983.2:p.Val664Leu | |
| NR_149162.2:n.2069G>C | ||
| NR_149163.2:n.2069G>C | ||
| NM_001193376.3:c.1990G>C | NP_001180305.1:p.Val664Leu | |
| NR_149162.3:n.2069G>C | ||
| NR_149163.3:n.2069G>C |