Linked Data
ClinVar Variation Id:
16347
dbSNP Id:
rs28928868
gnomAD v2:
4-1807891-G-C
gnomAD v4:
4-1806164-G-C
PubMed:
PMID:11055896
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.1806164G>C , CM000666.2:g.1806164G>C | GRCh38 |
| NC_000004.11:g.1807891G>C , CM000666.1:g.1807891G>C | GRCh37 |
| NC_000004.10:g.1777689G>C | NCBI36 |
| NG_012632.1:g.17853G>C , LRG_1021:g.17853G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340107.9:c.1956G>C | ENSP00000339824.4:p.Lys652Asn | |
| ENST00000260795.8:c.*1006G>C | ENSP00000260795.3:n.*1006G>C | |
| ENST00000352904.6:c.1614G>C | ENSP00000231803.1:p.Lys538Asn | |
| ENST00000412135.7:c.1938G>C | ENSP00000412903.3:p.Lys646Asn | |
| ENST00000440486.8:c.1950G>C MANE Select | ENSP00000414914.2:p.Lys650Asn | |
| ENST00000481110.7:c.1953G>C | ENSP00000420533.2:p.Lys651Asn | |
| ENST00000260795.6:c.1950G>C | ENSP00000260795.2:p.Lys650Asn | |
| ENST00000340107.8:c.1956G>C | ENSP00000339824.4:p.Lys652Asn | |
| ENST00000352904.5:c.1614G>C | ENSP00000231803.1:p.Lys538Asn | |
| ENST00000412135.6:c.1614G>C | ENSP00000412903.2:p.Lys538Asn | |
| ENST00000440486.6:c.1950G>C | ENSP00000414914.2:p.Lys650Asn | |
| ENST00000481110.6:c.1953G>C | ENSP00000420533.2:p.Lys651Asn | |
| ENST00000613647.4:c.*1006G>C | ENSP00000479472.1:n.*1006G>C | |
| NM_000142.4:c.1950G>C , LRG_1021t1:c.1950G>C | NP_000133.1:p.Lys650Asn | |
| NM_001163213.1:c.1956G>C , LRG_1021t2:c.1956G>C | NP_001156685.1:p.Lys652Asn | |
| NM_022965.3:c.1614G>C | NP_075254.1:p.Lys538Asn | |
| XM_006713868.1:c.1962G>C | XP_006713931.1:p.Lys654Asn | |
| XM_006713869.1:c.1962G>C | XP_006713932.1:p.Lys654Asn | |
| XM_006713870.1:c.1959G>C | XP_006713933.1:p.Lys653Asn | |
| XM_006713871.1:c.1956G>C | XP_006713934.1:p.Lys652Asn | |
| XM_006713872.1:c.1953G>C | XP_006713935.1:p.Lys651Asn | |
| XM_006713873.1:c.1950G>C | XP_006713936.1:p.Lys650Asn | |
| XM_011513420.1:c.1956G>C | XP_011511722.1:p.Lys652Asn | |
| XM_011513422.1:c.1953G>C | XP_011511724.1:p.Lys651Asn | |
| NM_001354809.1:c.1953G>C | NP_001341738.1:p.Lys651Asn | |
| NM_001354810.1:c.1953G>C | NP_001341739.1:p.Lys651Asn | |
| NR_148971.1:n.2357G>C | ||
| NM_001354809.2:c.1953G>C | NP_001341738.1:p.Lys651Asn | |
| NM_001354810.2:c.1953G>C | NP_001341739.1:p.Lys651Asn | |
| NR_148971.2:n.2376G>C | ||
| NM_000142.5:c.1950G>C MANE Select | NP_000133.1:p.Lys650Asn | |
| NM_001163213.2:c.1956G>C | NP_001156685.1:p.Lys652Asn | |
| NM_022965.4:c.1614G>C | NP_075254.1:p.Lys538Asn |