Linked Data
ClinVar Variation Id:
226992
dbSNP Id:
rs116473352
ExAC:
2:223158947 C / G
gnomAD v2:
2-223158947-C-G
gnomAD v3:
2-222294228-C-G
gnomAD v4:
2-222294228-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.222294228C>G , CM000664.2:g.222294228C>G | GRCh38 |
| NC_000002.11:g.223158947C>G , CM000664.1:g.223158947C>G | GRCh37 |
| NC_000002.10:g.222867191C>G | NCBI36 |
| NG_011632.1:g.9754G>C | |
| NG_021186.1:g.1082C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258387.6:c.525G>C | ENSP00000258387.5:p.Lys175Asn | |
| ENST00000336840.11:c.525G>C | ENSP00000338767.5:p.Lys175Asn | |
| ENST00000344493.9:c.525G>C | ENSP00000342092.4:p.Lys175Asn | |
| ENST00000350526.9:c.525G>C | ENSP00000343052.4:p.Lys175Asn | |
| ENST00000392070.7:c.525G>C MANE Select | ENSP00000375922.3:p.Lys175Asn | |
| ENST00000647467.1:n.906G>C | ||
| ENST00000258387.5:c.525G>C | ENSP00000258387.5:p.Lys175Asn | |
| ENST00000336840.10:c.525G>C | ENSP00000338767.5:p.Lys175Asn | |
| ENST00000344493.8:c.525G>C | ENSP00000342092.4:p.Lys175Asn | |
| ENST00000350526.8:c.525G>C | ENSP00000343052.4:p.Lys175Asn | |
| ENST00000392069.6:c.525G>C | ENSP00000375921.2:p.Lys175Asn | |
| ENST00000392070.6:c.525G>C | ENSP00000375922.2:p.Lys175Asn | |
| ENST00000409551.7:c.522G>C | ENSP00000386750.3:p.Lys174Asn | |
| ENST00000409828.7:c.525G>C | ENSP00000386817.3:p.Lys175Asn | |
| NM_000438.5:c.525G>C | NP_000429.2:p.Lys175Asn | |
| NM_001127366.2:c.522G>C | NP_001120838.1:p.Lys174Asn | |
| NM_013942.4:c.525G>C | NP_039230.1:p.Lys175Asn | |
| NM_181457.3:c.525G>C | NP_852122.1:p.Lys175Asn | |
| NM_181458.3:c.525G>C | NP_852123.1:p.Lys175Asn | |
| NM_181459.3:c.525G>C | NP_852124.1:p.Lys175Asn | |
| NM_181460.3:c.525G>C | NP_852125.1:p.Lys175Asn | |
| NM_181461.3:c.525G>C | NP_852126.1:p.Lys175Asn | |
| XM_011511278.1:c.669G>C | XP_011509580.1:p.Lys223Asn | |
| XM_011511280.1:c.669G>C | XP_011509582.1:p.Lys223Asn | |
| XM_011511281.1:c.669G>C | XP_011509583.1:p.Lys223Asn | |
| NM_000438.6:c.525G>C | NP_000429.2:p.Lys175Asn | |
| NM_001127366.3:c.522G>C | NP_001120838.1:p.Lys174Asn | |
| NM_013942.5:c.525G>C | NP_039230.1:p.Lys175Asn | |
| NM_181457.4:c.525G>C | NP_852122.1:p.Lys175Asn | |
| NM_181458.4:c.525G>C MANE Select | NP_852123.1:p.Lys175Asn | |
| NM_181459.4:c.525G>C | NP_852124.1:p.Lys175Asn | |
| NM_181460.4:c.525G>C | NP_852125.1:p.Lys175Asn | |
| NM_181461.4:c.525G>C | NP_852126.1:p.Lys175Asn |