Linked Data
ClinVar Variation Id:
8510
ClinVar RCV Id:
RCV000009035
RCV000009036
RCV000157056
RCV001049766
RCV001804718
RCV002273923
RCV002345236
dbSNP Id:
rs121909326
gnomAD v4:
19-13235219-A-G
PubMed:
PMID:15452324
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.13235219A>G , CM000681.2:g.13235219A>G | GRCh38 |
| NC_000019.9:g.13346033A>G , CM000681.1:g.13346033A>G | GRCh37 |
| NC_000019.8:g.13207033A>G | NCBI36 |
| NG_011569.1:g.276242T>C , LRG_7:g.276242T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360228.11:c.5123T>C MANE Select | ENSP00000353362.5:p.Ile1708Thr | |
| ENST00000573710.7:c.5129T>C | ENSP00000460092.3:p.Ile1710Thr | |
| ENST00000573891.6:c.542T>C | ||
| ENST00000574822.6:n.347T>C | ||
| ENST00000585802.6:c.284T>C | ENSP00000465598.2:p.Ile95Thr | |
| ENST00000593267.2:n.328T>C | ||
| ENST00000635727.1:c.5126T>C | ENSP00000490001.1:p.Ile1709Thr | |
| ENST00000635742.1:n.1112T>C | ||
| ENST00000635895.1:c.5126T>C | ENSP00000490323.1:p.Ile1709Thr | |
| ENST00000636012.1:c.5126T>C | ENSP00000490223.1:p.Ile1709Thr | |
| ENST00000636058.1:c.438T>C | ||
| ENST00000636389.1:c.5126T>C | ENSP00000489992.1:p.Ile1709Thr | |
| ENST00000636473.1:c.229-183T>C | ENSP00000490173.1:n.229-183T>C | |
| ENST00000636549.1:c.5132T>C | ENSP00000490578.1:p.Ile1711Thr | |
| ENST00000637276.1:c.5126T>C | ENSP00000489777.1:p.Ile1709Thr | |
| ENST00000637297.1:c.419T>C | ENSP00000489692.1:p.Ile140Thr | |
| ENST00000637432.1:c.5141T>C | ENSP00000490617.1:p.Ile1714Thr | |
| ENST00000637736.1:c.4985T>C | ENSP00000489861.1:p.Ile1662Thr | |
| ENST00000637769.1:c.5126T>C | ENSP00000489778.1:p.Ile1709Thr | |
| ENST00000637777.1:c.328-183T>C | ||
| ENST00000637809.1:n.516T>C | ||
| ENST00000637819.1:c.527T>C | ENSP00000490686.1:p.Ile176Thr | |
| ENST00000637832.1:n.117T>C | ||
| ENST00000637927.1:c.5129T>C | ENSP00000489715.1:p.Ile1710Thr | |
| ENST00000638009.2:c.5126T>C | ENSP00000489913.1:p.Ile1709Thr | |
| ENST00000638029.1:c.5141T>C | ENSP00000489829.1:p.Ile1714Thr | |
| ENST00000664864.1:c.5327T>C | ENSP00000499449.1:p.Ile1776Thr | |
| ENST00000360228.9:c.5123T>C | ENSP00000353362.5:p.Ile1708Thr | |
| ENST00000573710.6:c.5126T>C | ENSP00000460092.2:p.Ile1709Thr | |
| ENST00000573891.5:c.542T>C | ||
| ENST00000574822.5:n.347T>C | ||
| ENST00000585802.5:c.1181T>C | ENSP00000465598.1:p.Ile394Thr | |
| ENST00000587525.5:c.584T>C | ENSP00000467729.1:p.Ile195Thr | |
| ENST00000593267.1:n.328T>C | ||
| ENST00000614285.4:c.5141T>C | ENSP00000479983.1:p.Ile1714Thr | |
| NM_000068.3:c.5141T>C | NP_000059.3:p.Ile1714Thr | |
| NM_001127221.1:c.5126T>C , LRG_7t1:c.5126T>C | NP_001120693.1:p.Ile1709Thr | |
| NM_001127222.1:c.5123T>C | NP_001120694.1:p.Ile1708Thr | |
| NM_001174080.1:c.5132T>C | NP_001167551.1:p.Ile1711Thr | |
| NM_023035.2:c.5141T>C | NP_075461.2:p.Ile1714Thr | |
| NM_000068.4:c.5141T>C | NP_000059.3:p.Ile1714Thr | |
| NM_001127222.2:c.5123T>C MANE Select | NP_001120694.1:p.Ile1708Thr | |
| NM_001174080.2:c.5132T>C | NP_001167551.1:p.Ile1711Thr | |
| NM_023035.3:c.5141T>C | NP_075461.2:p.Ile1714Thr | |
| NM_001127221.2:c.5126T>C | NP_001120693.1:p.Ile1709Thr |