Linked Data
ClinVar Variation Id:
242222
ClinVar RCV Id:
RCV002518371
dbSNP Id:
rs878855300
gnomAD v4:
5-1279323-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1279323G>A , CM000667.2:g.1279323G>A | GRCh38 |
| NC_000005.9:g.1279438G>A , CM000667.1:g.1279438G>A | GRCh37 |
| NC_000005.8:g.1332438G>A | NCBI36 |
| NG_009265.1:g.20725C>T , LRG_343:g.20725C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310581.10:c.2098C>T MANE Select | ENSP00000309572.5:p.Gln700Ter | |
| ENST00000656021.1:c.*1644C>T | ENSP00000499759.1:n.*1644C>T | |
| ENST00000310581.9:c.2098C>T | ENSP00000309572.5:p.Gln700Ter | |
| ENST00000334602.10:c.2098C>T | ENSP00000334346.6:p.Gln700Ter | |
| ENST00000460137.6:c.2098C>T | ENSP00000425003.1:p.Gln700Ter | |
| ENST00000484238.6:n.911C>T | ||
| ENST00000508104.2:c.2098C>T | ENSP00000426042.2:p.Gln700Ter | |
| NM_001193376.1:c.2098C>T | NP_001180305.1:p.Gln700Ter | |
| NM_198253.2:c.2098C>T , LRG_343t1:c.2098C>T | NP_937983.2:p.Gln700Ter | |
| XM_011514104.1:c.568C>T | XP_011512406.1:p.Gln190Ter | |
| XM_011514105.1:c.454C>T | XP_011512407.1:p.Gln152Ter | |
| XM_011514106.1:c.454C>T | XP_011512408.1:p.Gln152Ter | |
| NR_149162.1:n.2156C>T | ||
| NR_149163.1:n.2156C>T | ||
| NM_001193376.2:c.2098C>T | NP_001180305.1:p.Gln700Ter | |
| NM_198253.3:c.2098C>T MANE Select | NP_937983.2:p.Gln700Ter | |
| NR_149162.2:n.2177C>T | ||
| NR_149163.2:n.2177C>T | ||
| NM_001193376.3:c.2098C>T | NP_001180305.1:p.Gln700Ter | |
| NR_149162.3:n.2177C>T | ||
| NR_149163.3:n.2177C>T |