Linked Data
dbSNP Id:
rs147431622
ExAC:
5:141693834 G / A
gnomAD v2:
5-141693834-G-A
gnomAD v3:
5-142314269-G-A
gnomAD v4:
5-142314269-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.142314269G>A , CM000667.2:g.142314269G>A | GRCh38 |
| NC_000005.9:g.141693834G>A , CM000667.1:g.141693834G>A | GRCh37 |
| NC_000005.8:g.141674018G>A | NCBI36 |
| NG_034148.1:g.15787C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000434127.3:c.840C>T MANE Select | ENSP00000399468.2:p.Ser280= | |
| ENST00000643792.1:n.1522C>T | ||
| ENST00000344120.4:c.909C>T | ENSP00000344967.4:p.Ser303= | |
| ENST00000434127.2:c.840C>T | ENSP00000399468.2:p.Ser280= | |
| NM_001127496.1:c.840C>T | NP_001120968.1:p.Ser280= | |
| NM_001293289.1:c.840C>T | NP_001280218.1:p.Ser280= | |
| NM_001293290.1:c.840C>T | NP_001280219.1:p.Ser280= | |
| NM_030964.3:c.909C>T | NP_112226.2:p.Ser303= | |
| XM_011537685.1:c.909C>T | XP_011535987.1:p.Ser303= | |
| XM_011537685.3:c.909C>T | XP_011535987.1:p.Ser303= | |
| XM_017009910.2:c.840C>T | XP_016865399.1:p.Ser280= | |
| NM_001127496.2:c.840C>T | NP_001120968.1:p.Ser280= | |
| NM_001293289.2:c.840C>T | NP_001280218.1:p.Ser280= | |
| NM_001293290.2:c.840C>T | NP_001280219.1:p.Ser280= | |
| NM_030964.4:c.909C>T | NP_112226.2:p.Ser303= | |
| NM_001127496.3:c.840C>T MANE Select | NP_001120968.1:p.Ser280= | |
| NM_001293289.3:c.840C>T | NP_001280218.1:p.Ser280= | |
| NM_001293290.3:c.840C>T | NP_001280219.1:p.Ser280= | |
| NM_030964.5:c.909C>T | NP_112226.2:p.Ser303= |