Linked Data
ClinVar Variation Id:
197504
ClinVar RCV Id:
RCV000245703
RCV000711564
RCV001085998
RCV001274849
RCV001449590
RCV002466461
RCV003891739
dbSNP Id:
rs146384562
ExAC:
2:71887715 T / C
gnomAD v2:
2-71887715-T-C
gnomAD v3:
2-71660585-T-C
gnomAD v4:
2-71660585-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.71660585T>C , CM000664.2:g.71660585T>C | GRCh38 |
| NC_000002.11:g.71887715T>C , CM000664.1:g.71887715T>C | GRCh37 |
| NC_000002.10:g.71741223T>C | NCBI36 |
| NG_008694.1:g.211963T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698057.1:c.2351T>C | ENSP00000513536.1:p.Ile784Thr | |
| ENST00000698058.1:c.1568T>C | ENSP00000513537.1:p.Ile523Thr | |
| ENST00000698059.1:c.1676T>C | ENSP00000513538.1:p.Ile559Thr | |
| ENST00000258104.8:c.4820T>C MANE Plus Clinical | ENSP00000258104.3:p.Ile1607Thr | |
| ENST00000410020.8:c.4937T>C MANE Select | ENSP00000386881.3:p.Ile1646Thr | |
| ENST00000258104.7:c.4820T>C | ENSP00000258104.3:p.Ile1607Thr | |
| ENST00000394120.6:c.4823T>C | ENSP00000377678.2:p.Ile1608Thr | |
| ENST00000409366.5:c.4886T>C | ENSP00000386512.1:p.Ile1629Thr | |
| ENST00000409582.7:c.4934T>C | ENSP00000386547.3:p.Ile1645Thr | |
| ENST00000409651.5:c.4916T>C | ENSP00000386683.1:p.Ile1639Thr | |
| ENST00000409744.5:c.4844T>C | ENSP00000386285.1:p.Ile1615Thr | |
| ENST00000409762.5:c.4871T>C | ENSP00000387137.1:p.Ile1624Thr | |
| ENST00000410020.7:c.4937T>C | ENSP00000386881.3:p.Ile1646Thr | |
| ENST00000410041.1:c.4874T>C | ENSP00000386617.1:p.Ile1625Thr | |
| ENST00000413539.6:c.4913T>C | ENSP00000407046.2:p.Ile1638Thr | |
| ENST00000429174.6:c.4883T>C | ENSP00000398305.2:p.Ile1628Thr | |
| ENST00000479049.6:n.1705T>C | ||
| NM_001130455.1:c.4823T>C | NP_001123927.1:p.Ile1608Thr | |
| NM_001130976.1:c.4778T>C | NP_001124448.1:p.Ile1593Thr | |
| NM_001130977.1:c.4841T>C | NP_001124449.1:p.Ile1614Thr | |
| NM_001130978.1:c.4883T>C | NP_001124450.1:p.Ile1628Thr | |
| NM_001130979.1:c.4913T>C | NP_001124451.1:p.Ile1638Thr | |
| NM_001130980.1:c.4871T>C | NP_001124452.1:p.Ile1624Thr | |
| NM_001130981.1:c.4934T>C | NP_001124453.1:p.Ile1645Thr | |
| NM_001130982.1:c.4916T>C | NP_001124454.1:p.Ile1639Thr | |
| NM_001130983.1:c.4886T>C | NP_001124455.1:p.Ile1629Thr | |
| NM_001130984.1:c.4844T>C | NP_001124456.1:p.Ile1615Thr | |
| NM_001130985.1:c.4874T>C | NP_001124457.1:p.Ile1625Thr | |
| NM_001130986.1:c.4781T>C | NP_001124458.1:p.Ile1594Thr | |
| NM_001130987.1:c.4937T>C | NP_001124459.1:p.Ile1646Thr | |
| NM_003494.3:c.4820T>C | NP_003485.1:p.Ile1607Thr | |
| XM_005264584.3:c.4979T>C | XP_005264641.1:p.Ile1660Thr | |
| XM_005264585.3:c.4976T>C | XP_005264642.1:p.Ile1659Thr | |
| XM_005264584.4:c.4979T>C | XP_005264641.1:p.Ile1660Thr | |
| XM_005264585.5:c.4976T>C | XP_005264642.1:p.Ile1659Thr | |
| XR_001738969.1:n.5137T>C | ||
| NM_001130987.2:c.4937T>C MANE Select | NP_001124459.1:p.Ile1646Thr | |
| NM_001130455.2:c.4823T>C | NP_001123927.1:p.Ile1608Thr | |
| NM_001130976.2:c.4778T>C | NP_001124448.1:p.Ile1593Thr | |
| NM_001130977.2:c.4841T>C | NP_001124449.1:p.Ile1614Thr | |
| NM_001130978.2:c.4883T>C | NP_001124450.1:p.Ile1628Thr | |
| NM_001130979.2:c.4913T>C | NP_001124451.1:p.Ile1638Thr | |
| NM_001130980.2:c.4871T>C | NP_001124452.1:p.Ile1624Thr | |
| NM_001130981.2:c.4934T>C | NP_001124453.1:p.Ile1645Thr | |
| NM_001130982.2:c.4916T>C | NP_001124454.1:p.Ile1639Thr | |
| NM_001130983.2:c.4886T>C | NP_001124455.1:p.Ile1629Thr | |
| NM_001130984.2:c.4844T>C | NP_001124456.1:p.Ile1615Thr | |
| NM_001130985.2:c.4874T>C | NP_001124457.1:p.Ile1625Thr | |
| NM_001130986.2:c.4781T>C | NP_001124458.1:p.Ile1594Thr | |
| NM_003494.4:c.4820T>C MANE Plus Clinical | NP_003485.1:p.Ile1607Thr |