Linked Data
ClinVar Variation Id:
161601
ClinVar RCV Id:
RCV000149137
dbSNP Id:
rs193920806
ExAC:
7:157414059 A / G
gnomAD v2:
7-157414059-A-G
gnomAD v3:
7-157621367-A-G
gnomAD v4:
7-157621367-A-G
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.157621367A>G , CM000669.2:g.157621367A>G | GRCh38 |
| NC_000007.13:g.157414059A>G , CM000669.1:g.157414059A>G | GRCh37 |
| NC_000007.12:g.157106820A>G | NCBI36 |
| NG_029966.1:g.971424T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389418.9:c.2339T>C MANE Select | ENSP00000374069.4:p.Leu780Pro | |
| ENST00000648371.1:c.143T>C | ENSP00000498058.1:p.Leu48Pro | |
| ENST00000389413.7:c.2252T>C | ENSP00000374064.3:p.Leu751Pro | |
| ENST00000389416.8:c.2288T>C | ENSP00000374067.4:p.Leu763Pro | |
| ENST00000389418.8:c.2339T>C | ENSP00000374069.4:p.Leu780Pro | |
| ENST00000409483.5:c.2225T>C | ENSP00000387114.1:p.Leu742Pro | |
| NM_001308267.1:c.2225T>C | NP_001295196.1:p.Leu742Pro | |
| NM_001308268.1:c.2408T>C | NP_001295197.1:p.Leu803Pro | |
| NM_002847.3:c.2339T>C | NP_002838.2:p.Leu780Pro | |
| NM_002847.4:c.2339T>C | NP_002838.2:p.Leu780Pro | |
| NM_130842.2:c.2288T>C | NP_570857.2:p.Leu763Pro | |
| NM_130842.3:c.2288T>C | NP_570857.2:p.Leu763Pro | |
| NM_130843.2:c.2252T>C | NP_570858.2:p.Leu751Pro | |
| NM_130843.3:c.2252T>C | NP_570858.2:p.Leu751Pro | |
| XM_011516446.1:c.2339T>C | XP_011514748.1:p.Leu780Pro | |
| XM_017012475.1:c.2141T>C | XP_016867964.1:p.Leu714Pro | |
| XM_017012476.1:c.2339T>C | XP_016867965.1:p.Leu780Pro | |
| NM_002847.5:c.2339T>C MANE Select | NP_002838.2:p.Leu780Pro | |
| NM_001308267.2:c.2225T>C | NP_001295196.1:p.Leu742Pro | |
| NM_130842.4:c.2288T>C | NP_570857.2:p.Leu763Pro | |
| NM_130843.4:c.2252T>C | NP_570858.2:p.Leu751Pro | |
| NM_001308268.2:c.2408T>C | NP_001295197.1:p.Leu803Pro |