Linked Data
dbSNP Id:
rs1208095608
gnomAD v2:
11-5270712-C-G
gnomAD v3:
11-5249482-C-G
gnomAD v4:
11-5249482-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5249482C>G , CM000673.2:g.5249482C>G | GRCh38 |
| NC_000011.9:g.5270712C>G , CM000673.1:g.5270712C>G | GRCh37 |
| NC_000011.8:g.5227288C>G | NCBI36 |
| NG_000007.3:g.48134G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330597.5:c.201G>C (HBG1) MANE Select | ENSP00000327431.4:p.Lys67Asn | |
| ENST00000642908.1:c.316-995G>C | ENSP00000495346.1:n.316-995G>C | |
| ENST00000647543.1:c.379-995G>C | ENSP00000496470.1:n.379-995G>C | |
| ENST00000648735.1:n.252G>C (HBG1) | ||
| ENST00000330597.3:c.201G>C (HBG1) | ENSP00000327431.3:p.Lys67Asn | |
| ENST00000620888.4:c.316-995G>C (HBG2) | ENSP00000479637.1:n.316-995G>C | |
| ENST00000623781.1:c.154C>G | ENSP00000485381.1:p.Leu52Val | |
| ENST00000632727.1:c.*70G>C (HBG1) | ENSP00000488759.1:n.*70G>C | |
| NM_000559.2:c.201G>C (HBG1) | NP_000550.2:p.Lys67Asn | |
| NM_000559.3:c.201G>C (HBG1) MANE Select | NP_000550.2:p.Lys67Asn |