Linked Data
dbSNP Id:
rs745357523
ExAC:
19:13007179 A / C
gnomAD v2:
19-13007179-A-C
gnomAD v4:
19-12896365-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12896365A>C , CM000681.2:g.12896365A>C | GRCh38 |
| NC_000019.9:g.13007179A>C , CM000681.1:g.13007179A>C | GRCh37 |
| NC_000019.8:g.12868179A>C | NCBI36 |
| NG_009292.1:g.10206A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222214.10:c.796A>C MANE Select | ENSP00000222214.4:p.Met266Leu | |
| ENST00000222214.9:c.796A>C | ENSP00000222214.4:p.Met266Leu | |
| ENST00000421816.6:n.774A>C | ||
| ENST00000585420.5:n.1126A>C | ||
| ENST00000590530.5:c.*236A>C | ENSP00000468452.1:n.*236A>C | |
| ENST00000591043.1:n.832A>C | ||
| ENST00000591470.5:c.796A>C | ENSP00000466845.1:p.Met266Leu | |
| NM_000159.3:c.796A>C | NP_000150.1:p.Met266Leu | |
| NM_013976.3:c.796A>C | NP_039663.1:p.Met266Leu | |
| NR_102316.1:n.959A>C | ||
| NR_102317.1:n.1177A>C | ||
| XM_006722721.2:c.796A>C | XP_006722784.1:p.Met266Leu | |
| XM_011527899.1:c.796A>C | XP_011526201.1:p.Met266Leu | |
| XM_011527900.1:c.796A>C | XP_011526202.1:p.Met266Leu | |
| XM_011527899.2:c.796A>C | XP_011526201.1:p.Met266Leu | |
| XM_011527900.2:c.796A>C | XP_011526202.1:p.Met266Leu | |
| XM_017026580.1:c.796A>C | XP_016882069.1:p.Met266Leu | |
| NM_000159.4:c.796A>C MANE Select | NP_000150.1:p.Met266Leu | |
| NM_013976.4:c.796A>C | NP_039663.1:p.Met266Leu | |
| NM_013976.5:c.796A>C | NP_039663.1:p.Met266Leu |