Linked Data
ClinVar Variation Id:
350724
ClinVar RCV Id:
RCV000291722
RCV000328047
RCV000381346
RCV001821074
RCV002255373
RCV002520301
RCV001584066
RCV002450924
dbSNP Id:
rs377216965
ExAC:
5:1271311 G / C
gnomAD v2:
5-1271311-G-C
gnomAD v3:
5-1271196-G-C
gnomAD v4:
5-1271196-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1271196G>C , CM000667.2:g.1271196G>C | GRCh38 |
| NC_000005.9:g.1271311G>C , CM000667.1:g.1271311G>C | GRCh37 |
| NC_000005.8:g.1324311G>C | NCBI36 |
| NG_009265.1:g.28852C>G , LRG_343:g.28852C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310581.10:c.2391C>G MANE Select | ENSP00000309572.5:p.Ser797= | |
| ENST00000656021.1:c.*1937C>G | ENSP00000499759.1:n.*1937C>G | |
| ENST00000310581.9:c.2391C>G | ENSP00000309572.5:p.Ser797= | |
| ENST00000334602.10:c.2391C>G | ENSP00000334346.6:p.Ser797= | |
| ENST00000460137.6:c.2251-2563C>G | ENSP00000425003.1:n.2251-2563C>G | |
| ENST00000484238.6:n.1100-2563C>G | ||
| ENST00000508104.2:c.2287-2563C>G | ENSP00000426042.2:n.2287-2563C>G | |
| NM_001193376.1:c.2391C>G | NP_001180305.1:p.Ser797= | |
| NM_198253.2:c.2391C>G , LRG_343t1:c.2391C>G | NP_937983.2:p.Ser797= | |
| XM_011514104.1:c.861C>G | XP_011512406.1:p.Ser287= | |
| XM_011514105.1:c.747C>G | XP_011512407.1:p.Ser249= | |
| XM_011514106.1:c.747C>G | XP_011512408.1:p.Ser249= | |
| NR_149162.1:n.2345-2563C>G | ||
| NR_149163.1:n.2309-2563C>G | ||
| NM_001193376.2:c.2391C>G | NP_001180305.1:p.Ser797= | |
| NM_198253.3:c.2391C>G MANE Select | NP_937983.2:p.Ser797= | |
| NR_149162.2:n.2366-2563C>G | ||
| NR_149163.2:n.2330-2563C>G | ||
| NM_001193376.3:c.2391C>G | NP_001180305.1:p.Ser797= | |
| NR_149162.3:n.2366-2563C>G | ||
| NR_149163.3:n.2330-2563C>G |