Linked Data
dbSNP Id:
rs1261788273
gnomAD v2:
3-81754864-A-C
gnomAD v3:
3-81705713-A-C
gnomAD v4:
3-81705713-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.81705713A>C , CM000665.2:g.81705713A>C | GRCh38 |
| NC_000003.11:g.81754864A>C , CM000665.1:g.81754864A>C | GRCh37 |
| NC_000003.10:g.81837554A>C | NCBI36 |
| NG_011810.1:g.61088T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000429644.7:c.144-100T>G MANE Select | ENSP00000410833.2:n.144-100T>G | |
| ENST00000429644.6:c.144-100T>G | ENSP00000410833.2:n.144-100T>G | |
| ENST00000489715.1:c.21-100T>G | ENSP00000419638.1:n.21-100T>G | |
| NM_000158.3:c.144-100T>G | NP_000149.3:n.144-100T>G | |
| NM_000158.4:c.144-100T>G MANE Select | NP_000149.4:n.144-100T>G |