Linked Data
dbSNP Id:
rs752276658
gnomAD v2:
11-61605520-C-G
gnomAD v3:
11-61838048-C-G
gnomAD v4:
11-61838048-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61838048C>G , CM000673.2:g.61838048C>G | GRCh38 |
| NC_000011.9:g.61605520C>G , CM000673.1:g.61605520C>G | GRCh37 |
| NC_000011.8:g.61362096C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000278840.9:c.318+160C>G MANE Select | ENSP00000278840.4:n.318+160C>G | |
| ENST00000257261.10:c.252+160C>G | ENSP00000257261.6:n.252+160C>G | |
| ENST00000278840.8:c.318+160C>G | ENSP00000278840.4:n.318+160C>G | |
| ENST00000517312.5:c.-49+160C>G | ENSP00000430225.1:n.-49+160C>G | |
| ENST00000518606.5:c.-49+160C>G | ENSP00000430054.1:n.-49+160C>G | |
| ENST00000521849.5:c.318+160C>G | ENSP00000431091.1:n.318+160C>G | |
| ENST00000522056.5:c.225+160C>G | ENSP00000429500.1:n.225+160C>G | |
| NM_001281501.1:c.252+160C>G | NP_001268430.1:n.252+160C>G | |
| NM_001281502.1:c.225+160C>G | NP_001268431.1:n.225+160C>G | |
| NM_004265.3:c.318+160C>G | NP_004256.1:n.318+160C>G | |
| XM_011545395.1:c.318+160C>G | XP_011543697.1:n.318+160C>G | |
| NM_004265.4:c.318+160C>G MANE Select | NP_004256.1:n.318+160C>G |