Linked Data
ClinVar Variation Id:
1927718
ClinVar RCV Id:
RCV002621836
dbSNP Id:
rs1450703291
gnomAD v2:
X-67283876-C-G
gnomAD v4:
X-68064034-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.68064034C>G , CM000685.2:g.68064034C>G | GRCh38 |
| NC_000023.10:g.67283876C>G , CM000685.1:g.67283876C>G | GRCh37 |
| NC_000023.9:g.67200601C>G | NCBI36 |
| NG_008960.1:g.374424G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355520.6:c.1978G>C MANE Select | ENSP00000347710.5:p.Gly660Arg | |
| ENST00000679748.1:c.1834+9118G>C | ENSP00000505800.1:n.1834+9118G>C | |
| ENST00000679822.1:c.1834+9118G>C | ENSP00000505810.1:n.1834+9118G>C | |
| ENST00000680592.1:n.1484G>C | ||
| ENST00000680612.1:c.1686+32836G>C | ENSP00000505365.1:n.1686+32836G>C | |
| ENST00000681408.1:c.1873G>C | ENSP00000506619.1:p.Gly625Arg | |
| ENST00000355520.5:c.1978G>C | ENSP00000347710.5:p.Gly660Arg | |
| ENST00000484842.1:n.594G>C | ||
| NM_002547.2:c.1978G>C | NP_002538.1:p.Gly660Arg | |
| XM_005262270.1:c.1834+9118G>C | XP_005262327.1:n.1834+9118G>C | |
| XM_006724653.1:c.1978G>C | XP_006724716.1:p.Gly660Arg | |
| XM_011530961.1:c.1978G>C | XP_011529263.1:p.Gly660Arg | |
| XM_006724653.2:c.1978G>C | XP_006724716.1:p.Gly660Arg | |
| NM_002547.3:c.1978G>C MANE Select | NP_002538.1:p.Gly660Arg |