Linked Data
ClinVar Variation Id:
214619
dbSNP Id:
rs199727887
ExAC:
2:44204298 T / G
gnomAD v2:
2-44204298-T-G
gnomAD v3:
2-43977159-T-G
gnomAD v4:
2-43977159-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43977159T>G , CM000664.2:g.43977159T>G | GRCh38 |
| NC_000002.11:g.44204298T>G , CM000664.1:g.44204298T>G | GRCh37 |
| NC_000002.10:g.44057802T>G | NCBI36 |
| NG_008247.1:g.23847A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000409659.6:c.587A>C | ENSP00000386562.2:p.Asn196Thr | |
| ENST00000409946.6:c.587A>C | ENSP00000386234.1:p.Asn196Thr | |
| ENST00000447246.2:c.587A>C | ENSP00000403637.2:p.Asn196Thr | |
| ENST00000681959.1:n.201A>C | ||
| ENST00000681961.1:n.607A>C | ||
| ENST00000682104.1:c.461A>C | ENSP00000507716.1:p.Asn154Thr | |
| ENST00000682303.1:c.*459A>C | ENSP00000508325.1:n.*459A>C | |
| ENST00000682308.1:c.587A>C | ENSP00000507056.1:p.Asn196Thr | |
| ENST00000682480.1:c.587A>C | ENSP00000508344.1:p.Asn196Thr | |
| ENST00000682496.1:n.551A>C | ||
| ENST00000682546.1:c.587A>C | ENSP00000508188.1:p.Asn196Thr | |
| ENST00000682585.1:c.587A>C | ENSP00000506885.1:p.Asn196Thr | |
| ENST00000682595.1:n.602A>C | ||
| ENST00000682779.1:c.578A>C | ENSP00000507947.1:p.Asn193Thr | |
| ENST00000682885.1:c.587A>C | ENSP00000508036.1:p.Asn196Thr | |
| ENST00000683072.1:n.602A>C | ||
| ENST00000683082.1:n.605A>C | ||
| ENST00000683125.1:c.587A>C | ENSP00000507939.1:p.Asn196Thr | |
| ENST00000683213.1:c.587A>C | ENSP00000507751.1:p.Asn196Thr | |
| ENST00000683220.1:c.587A>C | ENSP00000507151.1:p.Asn196Thr | |
| ENST00000683329.1:n.626A>C | ||
| ENST00000683346.1:c.*459A>C | ENSP00000507458.1:n.*459A>C | |
| ENST00000683459.1:n.607A>C | ||
| ENST00000683590.1:c.587A>C | ENSP00000506820.1:p.Asn196Thr | |
| ENST00000683623.1:c.587A>C | ENSP00000507702.1:p.Asn196Thr | |
| ENST00000683796.1:c.*459A>C | ENSP00000508221.1:n.*459A>C | |
| ENST00000683802.1:n.423A>C | ||
| ENST00000683833.1:c.578A>C | ENSP00000506852.1:p.Asn193Thr | |
| ENST00000683934.1:c.241A>C | ||
| ENST00000683989.1:c.587A>C | ENSP00000507510.1:p.Asn196Thr | |
| ENST00000683994.1:c.587A>C | ENSP00000507181.1:p.Asn196Thr | |
| ENST00000684290.1:c.587A>C | ENSP00000507243.1:p.Asn196Thr | |
| ENST00000684306.1:c.*500A>C | ENSP00000508384.1:n.*500A>C | |
| ENST00000684329.1:n.629A>C | ||
| ENST00000684341.1:n.607A>C | ||
| ENST00000684383.1:c.*225A>C | ENSP00000506863.1:n.*225A>C | |
| ENST00000684482.1:c.241A>C | ||
| ENST00000684619.1:c.*459A>C | ENSP00000508088.1:n.*459A>C | |
| ENST00000684691.1:n.629A>C | ||
| ENST00000260665.12:c.587A>C MANE Select | ENSP00000260665.7:p.Asn196Thr | |
| ENST00000260665.11:c.587A>C | ENSP00000260665.7:p.Asn196Thr | |
| ENST00000409659.5:c.587A>C | ENSP00000386562.1:p.Asn196Thr | |
| ENST00000409946.5:c.587A>C | ENSP00000386234.1:p.Asn196Thr | |
| ENST00000447246.1:c.509A>C | ENSP00000403637.1:p.Asn170Thr | |
| NM_133259.3:c.587A>C | NP_573566.2:p.Asn196Thr | |
| XM_006711915.2:c.509A>C | XP_006711978.1:p.Asn170Thr | |
| XM_006711916.2:c.587A>C | XP_006711979.1:p.Asn196Thr | |
| XM_011532473.1:c.587A>C | XP_011530775.1:p.Asn196Thr | |
| XM_011532474.1:c.587A>C | XP_011530776.1:p.Asn196Thr | |
| XM_006711916.3:c.587A>C | XP_006711979.1:p.Asn196Thr | |
| XM_017003117.1:c.509A>C | XP_016858606.1:p.Asn170Thr | |
| XR_002958896.1:n.629A>C | ||
| NM_133259.4:c.587A>C MANE Select | NP_573566.2:p.Asn196Thr |