Linked Data
dbSNP Id:
rs985777241
gnomAD v2:
14-30095721-C-T
gnomAD v3:
14-29626515-C-T
gnomAD v4:
14-29626515-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.29626515C>T , CM000676.2:g.29626515C>T | GRCh38 |
| NC_000014.8:g.30095721C>T , CM000676.1:g.30095721C>T | GRCh37 |
| NC_000014.7:g.29165472C>T | NCBI36 |
| NG_052879.1:g.306179G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000616995.5:n.1538G>A | ||
| ENST00000691517.1:n.1051G>A | ||
| ENST00000331968.11:c.1767G>A MANE Select | ENSP00000333568.6:p.Leu589= | |
| ENST00000651571.1:c.1579G>A | ENSP00000498919.1:n.1579G>A | |
| ENST00000651616.1:c.1648G>A | ENSP00000498661.1:n.1648G>A | |
| ENST00000331968.9:c.1767G>A | ENSP00000333568.5:p.Leu589= | |
| ENST00000415220.6:c.1791G>A | ENSP00000390535.2:p.Leu597= | |
| ENST00000616995.4:c.1767G>A | ENSP00000482645.1:p.Leu589= | |
| NM_002742.2:c.1767G>A | NP_002733.2:p.Leu589= | |
| XM_005267859.1:c.1791G>A | XP_005267916.1:p.Leu597= | |
| XM_011536964.1:c.1563G>A | XP_011535266.1:p.Leu521= | |
| XM_011536965.1:c.1503G>A | XP_011535267.1:p.Leu501= | |
| XR_943493.1:n.1906G>A | ||
| NM_001330069.1:c.1791G>A | NP_001316998.1:p.Leu597= | |
| NM_001348390.1:c.1503G>A | NP_001335319.1:p.Leu501= | |
| XM_011536965.2:c.1503G>A | XP_011535267.1:p.Leu501= | |
| XM_017021462.1:c.1272G>A | XP_016876951.1:p.Leu424= | |
| XR_943493.2:n.2084G>A | ||
| NM_001330069.2:c.1791G>A | NP_001316998.1:p.Leu597= | |
| NM_002742.3:c.1767G>A MANE Select | NP_002733.2:p.Leu589= |