Linked Data
ClinVar Variation Id:
456026
dbSNP Id:
rs139972217
ExAC:
17:76136994 C / T
gnomAD v2:
17-76136994-C-T
gnomAD v3:
17-78140913-C-T
gnomAD v4:
17-78140913-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.78140913C>T , CM000679.2:g.78140913C>T | GRCh38 |
| NC_000017.10:g.76136994C>T , CM000679.1:g.76136994C>T | GRCh37 |
| NC_000017.9:g.73648589C>T | NCBI36 |
| NG_007881.1:g.15136C>T , LRG_119:g.15136C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698567.1:n.1644C>T | ||
| ENST00000698570.1:n.1251C>T | ||
| ENST00000698572.1:n.1067C>T | ||
| ENST00000318430.10:c.1982C>T MANE Select | ENSP00000325561.4:p.Pro661Leu | |
| ENST00000318430.9:c.1982C>T | ENSP00000325561.4:p.Pro661Leu | |
| ENST00000589691.1:c.1313C>T | ENSP00000467482.1:p.Pro438Leu | |
| ENST00000591144.1:n.456C>T | ||
| NM_152468.4:c.1982C>T , LRG_119t1:c.1982C>T | NP_689681.2:p.Pro661Leu | |
| XM_011524402.1:c.2018C>T | XP_011522704.1:p.Pro673Leu | |
| XM_011524403.1:c.2006C>T | XP_011522705.1:p.Pro669Leu | |
| XM_011524404.1:c.1994C>T | XP_011522706.1:p.Pro665Leu | |
| XM_011524405.1:c.1904C>T | XP_011522707.1:p.Pro635Leu | |
| XM_011524406.1:c.1901C>T | XP_011522708.1:p.Pro634Leu | |
| XM_011524407.1:c.1349C>T | XP_011522709.1:p.Pro450Leu | |
| XM_011524408.1:c.1349C>T | XP_011522710.1:p.Pro450Leu | |
| XR_934395.1:n.4327C>T | ||
| XM_017024242.2:c.1157C>T | XP_016879731.1:p.Pro386Leu | |
| XM_024450617.1:c.2018C>T | XP_024306385.1:p.Pro673Leu | |
| XM_024450618.1:c.2015C>T | XP_024306386.1:p.Pro672Leu | |
| XM_024450619.1:c.2006C>T | XP_024306387.1:p.Pro669Leu | |
| XM_024450620.1:c.1994C>T | XP_024306388.1:p.Pro665Leu | |
| XM_024450621.1:c.1946C>T | XP_024306389.1:p.Pro649Leu | |
| XM_024450622.1:c.1922C>T | XP_024306390.1:p.Pro641Leu | |
| XM_024450623.1:c.1901C>T | XP_024306391.1:p.Pro634Leu | |
| XR_002957973.1:n.2099C>T | ||
| XR_002957974.1:n.2040C>T | ||
| XR_002957975.1:n.2028C>T | ||
| XR_002957976.1:n.2047C>T | ||
| XR_002957977.1:n.2035C>T | ||
| XR_002957978.1:n.2082C>T | ||
| XR_002957979.1:n.1951C>T | ||
| NM_152468.5:c.1982C>T MANE Select | NP_689681.2:p.Pro661Leu |