Linked Data
dbSNP Id:
rs763502453
ExAC:
5:150639460 C / A
gnomAD v2:
5-150639460-C-A
gnomAD v3:
5-151259899-C-A
gnomAD v4:
5-151259899-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.151259899C>A , CM000667.2:g.151259899C>A | GRCh38 |
| NC_000005.9:g.150639460C>A , CM000667.1:g.150639460C>A | GRCh37 |
| NC_000005.8:g.150619653C>A | NCBI36 |
| NG_009059.1:g.11848C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357164.4:c.226C>A MANE Select | ENSP00000349687.3:p.Leu76Met | |
| ENST00000357164.3:c.226C>A | ENSP00000349687.3:p.Leu76Met | |
| ENST00000523004.1:c.101C>A | ||
| ENST00000523466.5:c.271C>A | ENSP00000429100.1:p.Leu91Met | |
| NM_000405.4:c.226C>A | NP_000396.2:p.Leu76Met | |
| NM_001167607.1:c.226C>A | NP_001161079.1:p.Leu76Met | |
| NM_000405.5:c.226C>A MANE Select | NP_000396.2:p.Leu76Met | |
| NM_001167607.2:c.226C>A | NP_001161079.1:p.Leu76Met | |
| NM_001167607.3:c.226C>A | NP_001161079.1:p.Leu76Met |