Linked Data
dbSNP Id:
rs1805974
gnomAD v2:
5-9202419-T-C
gnomAD v3:
5-9202307-T-C
gnomAD v4:
5-9202307-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.9202307T>C , CM000667.2:g.9202307T>C | GRCh38 |
| NC_000005.9:g.9202419T>C , CM000667.1:g.9202419T>C | GRCh37 |
| NC_000005.8:g.9255419T>C | NCBI36 |
| NG_016410.1:g.348815A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000382496.10:c.647-67A>G MANE Select | ENSP00000371936.5:n.647-67A>G | |
| ENST00000652226.1:c.647-67A>G | ENSP00000499013.1:n.647-67A>G | |
| ENST00000382496.9:c.647-67A>G | ENSP00000371936.5:n.647-67A>G | |
| ENST00000513968.4:c.647-67A>G | ENSP00000421961.1:n.647-67A>G | |
| ENST00000514923.4:n.489-67A>G | ||
| NM_003966.2:c.647-67A>G | NP_003957.2:n.647-67A>G | |
| XM_006714506.2:c.647-67A>G | XP_006714569.1:n.647-67A>G | |
| XM_006714507.2:c.647-67A>G | XP_006714570.1:n.647-67A>G | |
| XM_011514155.1:c.647-67A>G | XP_011512457.1:n.647-67A>G | |
| XM_011514156.1:c.647-67A>G | XP_011512458.1:n.647-67A>G | |
| XM_011514157.1:c.647-67A>G | XP_011512459.1:n.647-67A>G | |
| XM_011514158.1:c.647-67A>G | XP_011512460.1:n.647-67A>G | |
| XM_011514159.1:c.506-67A>G | XP_011512461.1:n.506-67A>G | |
| XM_006714506.3:c.647-67A>G | XP_006714569.1:n.647-67A>G | |
| XM_006714507.3:c.647-67A>G | XP_006714570.1:n.647-67A>G | |
| XM_011514155.2:c.647-67A>G | XP_011512457.1:n.647-67A>G | |
| XM_011514156.2:c.647-67A>G | XP_011512458.1:n.647-67A>G | |
| XM_011514157.2:c.647-67A>G | XP_011512459.1:n.647-67A>G | |
| XM_011514158.2:c.647-67A>G | XP_011512460.1:n.647-67A>G | |
| XM_011514159.2:c.506-67A>G | XP_011512461.1:n.506-67A>G | |
| XM_017010016.2:c.176-67A>G | XP_016865505.1:n.176-67A>G | |
| NM_003966.3:c.647-67A>G MANE Select | NP_003957.2:n.647-67A>G |