Linked Data
dbSNP Id:
rs17632542
ExAC:
19:51361757 T / C
gnomAD v2:
19-51361757-T-C
gnomAD v3:
19-50858501-T-C
gnomAD v4:
19-50858501-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.50858501T>C , CM000681.2:g.50858501T>C | GRCh38 |
| NC_000019.9:g.51361757T>C , CM000681.1:g.51361757T>C | GRCh37 |
| NC_000019.8:g.56053569T>C | NCBI36 |
| NG_011653.1:g.8587T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000326003.7:c.536T>C MANE Select | ENSP00000314151.1:p.Ile179Thr | |
| ENST00000326003.6:c.536T>C | ENSP00000314151.1:p.Ile179Thr | |
| ENST00000360617.7:c.536T>C | ENSP00000353829.2:p.Ile179Thr | |
| ENST00000422986.6:c.*192T>C | ENSP00000393628.2:n.*192T>C | |
| ENST00000593997.5:c.536T>C | ENSP00000472907.1:p.Ile179Thr | |
| ENST00000595392.5:c.*37T>C | ENSP00000468912.1:n.*37T>C | |
| ENST00000595952.5:c.407T>C | ENSP00000471155.1:p.Ile136Thr | |
| ENST00000596185.5:c.*644T>C | ENSP00000471648.1:n.*644T>C | |
| ENST00000596333.1:n.714T>C | ||
| ENST00000597286.5:c.425T>C | ENSP00000470523.1:p.Ile142Thr | |
| ENST00000597483.5:c.407T>C | ENSP00000472411.1:p.Ile136Thr | |
| ENST00000598145.1:c.538T>C | ||
| ENST00000601349.5:n.1815T>C | ||
| ENST00000601503.5:c.479T>C | ENSP00000472213.1:p.Ile160Thr | |
| ENST00000601812.1:n.968T>C | ||
| ENST00000617027.4:c.413T>C | ENSP00000483513.1:p.Ile138Thr | |
| NM_001030047.1:c.536T>C | NP_001025218.1:p.Ile179Thr | |
| NM_001030048.1:c.407T>C | NP_001025219.1:p.Ile136Thr | |
| NM_001648.2:c.536T>C MANE Select | NP_001639.1:p.Ile179Thr | |
| XM_011526923.1:c.554T>C | XP_011525225.1:p.Ile185Thr | |
| XM_011526924.1:c.554T>C | XP_011525226.1:p.Ile185Thr | |
| XR_935817.1:n.571T>C |