Linked Data
dbSNP Id:
rs1277034773
gnomAD v2:
19-51361588-T-C
gnomAD v3:
19-50858332-T-C
gnomAD v4:
19-50858332-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.50858332T>C , CM000681.2:g.50858332T>C | GRCh38 |
| NC_000019.9:g.51361588T>C , CM000681.1:g.51361588T>C | GRCh37 |
| NC_000019.8:g.56053400T>C | NCBI36 |
| NG_011653.1:g.8418T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326003.7:c.493+17T>C MANE Select | ENSP00000314151.1:n.493+17T>C | |
| ENST00000326003.6:c.493+17T>C | ENSP00000314151.1:n.493+17T>C | |
| ENST00000360617.7:c.493+17T>C | ENSP00000353829.2:n.493+17T>C | |
| ENST00000422986.6:c.*149+17T>C | ENSP00000393628.2:n.*149+17T>C | |
| ENST00000593997.5:c.493+17T>C | ENSP00000472907.1:n.493+17T>C | |
| ENST00000595392.5:c.369+17T>C | ENSP00000468912.1:n.369+17T>C | |
| ENST00000595952.5:c.364+17T>C | ENSP00000471155.1:n.364+17T>C | |
| ENST00000596185.5:c.*601+17T>C | ENSP00000471648.1:n.*601+17T>C | |
| ENST00000596333.1:n.545T>C | ||
| ENST00000597286.5:c.382+17T>C | ENSP00000470523.1:n.382+17T>C | |
| ENST00000597483.5:c.364+17T>C | ENSP00000472411.1:n.364+17T>C | |
| ENST00000598145.1:c.494T>C | ||
| ENST00000601349.5:n.1772+17T>C | ||
| ENST00000601503.5:c.436+17T>C | ENSP00000472213.1:n.436+17T>C | |
| ENST00000601812.1:n.925+17T>C | ||
| ENST00000617027.4:c.370+17T>C | ENSP00000483513.1:n.370+17T>C | |
| NM_001030047.1:c.493+17T>C | NP_001025218.1:n.493+17T>C | |
| NM_001030048.1:c.364+17T>C | NP_001025219.1:n.364+17T>C | |
| NM_001648.2:c.493+17T>C MANE Select | NP_001639.1:n.493+17T>C | |
| XM_011526923.1:c.510T>C | XP_011525225.1:p.Asp170= | |
| XM_011526924.1:c.510T>C | XP_011525226.1:p.Asp170= | |
| XR_935817.1:n.528+17T>C |