Linked Data
dbSNP Id:
rs11920719
gnomAD v2:
3-170834559-A-C
gnomAD v3:
3-171116770-A-C
gnomAD v4:
3-171116770-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.171116770A>C , CM000665.2:g.171116770A>C | GRCh38 |
| NC_000003.11:g.170834559A>C , CM000665.1:g.170834559A>C | GRCh37 |
| NC_000003.10:g.172317253A>C | NCBI36 |
| NG_054934.1:g.348639T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000436636.7:c.2121-5893T>G MANE Select | ENSP00000399511.2:n.2121-5893T>G | |
| ENST00000284483.12:c.2121-5893T>G | ENSP00000284483.8:n.2121-5893T>G | |
| ENST00000341852.10:c.1869-5893T>G | ENSP00000345352.6:n.1869-5893T>G | |
| ENST00000357327.9:c.2034-5893T>G | ENSP00000349880.5:n.2034-5893T>G | |
| ENST00000436636.6:c.2121-5893T>G | ENSP00000399511.2:n.2121-5893T>G | |
| ENST00000460047.5:c.1956-5893T>G | ENSP00000418916.1:n.1956-5893T>G | |
| ENST00000470834.5:c.2034-5893T>G | ENSP00000419990.1:n.2034-5893T>G | |
| ENST00000475336.5:c.1869-5893T>G | ENSP00000418156.1:n.1869-5893T>G | |
| ENST00000488470.5:c.1956-5893T>G | ENSP00000418378.1:n.1956-5893T>G | |
| NM_001161560.1:c.2121-5893T>G | NP_001155032.1:n.2121-5893T>G | |
| NM_001161561.1:c.2034-5893T>G | NP_001155033.1:n.2034-5893T>G | |
| NM_001161562.1:c.2034-5893T>G | NP_001155034.1:n.2034-5893T>G | |
| NM_001161563.1:c.1956-5893T>G | NP_001155035.1:n.1956-5893T>G | |
| NM_001161564.1:c.1956-5893T>G | NP_001155036.1:n.1956-5893T>G | |
| NM_001161565.1:c.1869-5893T>G | NP_001155037.1:n.1869-5893T>G | |
| NM_001161566.1:c.1869-5893T>G | NP_001155038.1:n.1869-5893T>G | |
| NM_015028.2:c.2121-5893T>G | NP_055843.1:n.2121-5893T>G | |
| XR_924712.1:n.907+8854A>C | ||
| NM_001161560.2:c.2121-5893T>G | NP_001155032.1:n.2121-5893T>G | |
| NM_001161561.2:c.2034-5893T>G | NP_001155033.1:n.2034-5893T>G | |
| NM_001161562.2:c.2034-5893T>G | NP_001155034.1:n.2034-5893T>G | |
| NM_001161563.2:c.1956-5893T>G | NP_001155035.1:n.1956-5893T>G | |
| NM_001161564.2:c.1956-5893T>G | NP_001155036.1:n.1956-5893T>G | |
| NM_001161565.2:c.1869-5893T>G | NP_001155037.1:n.1869-5893T>G | |
| NM_001161566.2:c.1869-5893T>G | NP_001155038.1:n.1869-5893T>G | |
| NM_015028.3:c.2121-5893T>G | NP_055843.1:n.2121-5893T>G | |
| XR_001740524.1:n.4040A>C | ||
| XR_001740525.1:n.1369+8854A>C | ||
| NM_015028.4:c.2121-5893T>G MANE Select | NP_055843.1:n.2121-5893T>G | |
| NM_001161560.3:c.2121-5893T>G | NP_001155032.1:n.2121-5893T>G | |
| NM_001161561.3:c.2034-5893T>G | NP_001155033.1:n.2034-5893T>G | |
| NM_001161562.3:c.2034-5893T>G | NP_001155034.1:n.2034-5893T>G | |
| NM_001161563.3:c.1956-5893T>G | NP_001155035.1:n.1956-5893T>G | |
| NM_001161564.3:c.1956-5893T>G | NP_001155036.1:n.1956-5893T>G | |
| NM_001161565.3:c.1869-5893T>G | NP_001155037.1:n.1869-5893T>G | |
| NM_001161566.3:c.1869-5893T>G | NP_001155038.1:n.1869-5893T>G |