Linked Data
ClinVar Variation Id:
545008
ClinVar RCV Id:
RCV000656078
dbSNP Id:
rs770905160
gnomAD v4:
2-71656236-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.71656236C>G , CM000664.2:g.71656236C>G | GRCh38 |
| NC_000002.11:g.71883366C>G , CM000664.1:g.71883366C>G | GRCh37 |
| NC_000002.10:g.71736874C>G | NCBI36 |
| NG_008694.1:g.207614C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698057.1:c.2115C>G | ENSP00000513536.1:p.Tyr705Ter | |
| ENST00000698058.1:c.1332C>G | ENSP00000513537.1:p.Tyr444Ter | |
| ENST00000698059.1:c.1440C>G | ENSP00000513538.1:p.Tyr480Ter | |
| ENST00000258104.8:c.4584C>G MANE Plus Clinical | ENSP00000258104.3:p.Tyr1528Ter | |
| ENST00000410020.8:c.4701C>G MANE Select | ENSP00000386881.3:p.Tyr1567Ter | |
| ENST00000258104.7:c.4584C>G | ENSP00000258104.3:p.Tyr1528Ter | |
| ENST00000394120.6:c.4587C>G | ENSP00000377678.2:p.Tyr1529Ter | |
| ENST00000409366.5:c.4650C>G | ENSP00000386512.1:p.Tyr1550Ter | |
| ENST00000409582.7:c.4698C>G | ENSP00000386547.3:p.Tyr1566Ter | |
| ENST00000409651.5:c.4680C>G | ENSP00000386683.1:p.Tyr1560Ter | |
| ENST00000409744.5:c.4608C>G | ENSP00000386285.1:p.Tyr1536Ter | |
| ENST00000409762.5:c.4635C>G | ENSP00000387137.1:p.Tyr1545Ter | |
| ENST00000410020.7:c.4701C>G | ENSP00000386881.3:p.Tyr1567Ter | |
| ENST00000410041.1:c.4638C>G | ENSP00000386617.1:p.Tyr1546Ter | |
| ENST00000413539.6:c.4677C>G | ENSP00000407046.2:p.Tyr1559Ter | |
| ENST00000429174.6:c.4647C>G | ENSP00000398305.2:p.Tyr1549Ter | |
| ENST00000479049.6:n.1469C>G | ||
| NM_001130455.1:c.4587C>G | NP_001123927.1:p.Tyr1529Ter | |
| NM_001130976.1:c.4542C>G | NP_001124448.1:p.Tyr1514Ter | |
| NM_001130977.1:c.4605C>G | NP_001124449.1:p.Tyr1535Ter | |
| NM_001130978.1:c.4647C>G | NP_001124450.1:p.Tyr1549Ter | |
| NM_001130979.1:c.4677C>G | NP_001124451.1:p.Tyr1559Ter | |
| NM_001130980.1:c.4635C>G | NP_001124452.1:p.Tyr1545Ter | |
| NM_001130981.1:c.4698C>G | NP_001124453.1:p.Tyr1566Ter | |
| NM_001130982.1:c.4680C>G | NP_001124454.1:p.Tyr1560Ter | |
| NM_001130983.1:c.4650C>G | NP_001124455.1:p.Tyr1550Ter | |
| NM_001130984.1:c.4608C>G | NP_001124456.1:p.Tyr1536Ter | |
| NM_001130985.1:c.4638C>G | NP_001124457.1:p.Tyr1546Ter | |
| NM_001130986.1:c.4545C>G | NP_001124458.1:p.Tyr1515Ter | |
| NM_001130987.1:c.4701C>G | NP_001124459.1:p.Tyr1567Ter | |
| NM_003494.3:c.4584C>G | NP_003485.1:p.Tyr1528Ter | |
| XM_005264584.3:c.4743C>G | XP_005264641.1:p.Tyr1581Ter | |
| XM_005264585.3:c.4740C>G | XP_005264642.1:p.Tyr1580Ter | |
| XM_005264584.4:c.4743C>G | XP_005264641.1:p.Tyr1581Ter | |
| XM_005264585.5:c.4740C>G | XP_005264642.1:p.Tyr1580Ter | |
| XR_001738969.1:n.4901C>G | ||
| NM_001130987.2:c.4701C>G MANE Select | NP_001124459.1:p.Tyr1567Ter | |
| NM_001130455.2:c.4587C>G | NP_001123927.1:p.Tyr1529Ter | |
| NM_001130976.2:c.4542C>G | NP_001124448.1:p.Tyr1514Ter | |
| NM_001130977.2:c.4605C>G | NP_001124449.1:p.Tyr1535Ter | |
| NM_001130978.2:c.4647C>G | NP_001124450.1:p.Tyr1549Ter | |
| NM_001130979.2:c.4677C>G | NP_001124451.1:p.Tyr1559Ter | |
| NM_001130980.2:c.4635C>G | NP_001124452.1:p.Tyr1545Ter | |
| NM_001130981.2:c.4698C>G | NP_001124453.1:p.Tyr1566Ter | |
| NM_001130982.2:c.4680C>G | NP_001124454.1:p.Tyr1560Ter | |
| NM_001130983.2:c.4650C>G | NP_001124455.1:p.Tyr1550Ter | |
| NM_001130984.2:c.4608C>G | NP_001124456.1:p.Tyr1536Ter | |
| NM_001130985.2:c.4638C>G | NP_001124457.1:p.Tyr1546Ter | |
| NM_001130986.2:c.4545C>G | NP_001124458.1:p.Tyr1515Ter | |
| NM_003494.4:c.4584C>G MANE Plus Clinical | NP_003485.1:p.Tyr1528Ter |