Linked Data
ClinVar Variation Id:
9043
ClinVar RCV Id:
RCV000009610
dbSNP Id:
rs137852677
PubMed:
PMID:11452125
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.190975830A>G , CM000664.2:g.190975830A>G | GRCh38 |
| NC_000002.11:g.191840556A>G , CM000664.1:g.191840556A>G | GRCh37 |
| NC_000002.10:g.191548801A>G | NCBI36 |
| NG_008294.1:g.43421T>C , LRG_111:g.43421T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000698141.1:c.2117T>C | ENSP00000513582.1:p.Leu706Ser | |
| ENST00000698142.1:c.2057T>C | ENSP00000513583.1:p.Leu686Ser | |
| ENST00000698143.1:n.3990T>C | ||
| ENST00000698144.1:c.*1443T>C | ENSP00000513584.1:n.*1443T>C | |
| ENST00000698145.1:c.634-6081T>C | ENSP00000513585.1:n.634-6081T>C | |
| ENST00000698146.1:c.*1867T>C | ENSP00000513586.1:n.*1867T>C | |
| ENST00000698147.1:n.3637T>C | ||
| ENST00000698148.1:n.3967T>C | ||
| ENST00000698149.1:c.2117T>C | ENSP00000513587.1:p.Leu706Ser | |
| ENST00000698150.1:n.2048T>C | ||
| ENST00000361099.8:c.2117T>C MANE Select | ENSP00000354394.4:p.Leu706Ser | |
| ENST00000415035.2:c.2117T>C | ENSP00000388240.2:p.Leu706Ser | |
| ENST00000423282.2:c.*243T>C | ENSP00000388772.2:n.*243T>C | |
| ENST00000452281.6:c.*1443T>C | ENSP00000394512.1:n.*1443T>C | |
| ENST00000540176.6:c.2117T>C | ENSP00000438703.2:p.Leu706Ser | |
| ENST00000673734.1:c.*1284T>C | ENSP00000501040.1:n.*1284T>C | |
| ENST00000673762.1:n.616T>C | ||
| ENST00000673777.1:c.2111T>C | ENSP00000500982.1:p.Leu704Ser | |
| ENST00000673816.1:c.2117T>C | ENSP00000501127.1:p.Leu706Ser | |
| ENST00000673832.1:n.669T>C | ||
| ENST00000673841.1:c.2117T>C | ENSP00000501225.1:p.Leu706Ser | |
| ENST00000673847.1:c.2117T>C | ENSP00000501185.1:p.Leu706Ser | |
| ENST00000673858.1:c.*1443T>C | ENSP00000501196.1:n.*1443T>C | |
| ENST00000673863.1:c.826T>C | ENSP00000501286.1:n.826T>C | |
| ENST00000673885.1:c.*303T>C | ENSP00000501159.1:n.*303T>C | |
| ENST00000673942.1:c.2111T>C | ENSP00000501145.1:p.Leu704Ser | |
| ENST00000673952.1:c.2117T>C | ENSP00000501115.1:p.Leu706Ser | |
| ENST00000674028.1:n.570T>C | ||
| ENST00000674080.1:c.2117T>C | ENSP00000501164.1:p.Leu706Ser | |
| ENST00000674081.1:c.2117T>C | ENSP00000501289.1:p.Leu706Ser | |
| ENST00000674153.1:c.*285T>C | ENSP00000501120.1:n.*285T>C | |
| ENST00000361099.7:c.2117T>C | ENSP00000354394.3:p.Leu706Ser | |
| ENST00000392322.7:c.2117T>C | ENSP00000376136.3:p.Leu706Ser | |
| ENST00000392323.6:c.2123T>C | ENSP00000376137.2:p.Leu708Ser | |
| ENST00000409465.5:c.2117T>C | ENSP00000386244.1:p.Leu706Ser | |
| ENST00000423282.1:c.141T>C | ||
| ENST00000452281.5:c.*1443T>C | ENSP00000394512.1:n.*1443T>C | |
| ENST00000540176.5:c.*1443T>C | ENSP00000438703.1:n.*1443T>C | |
| NM_007315.3:c.2117T>C , LRG_111t1:c.2117T>C | NP_009330.1:p.Leu706Ser | |
| NM_139266.2:c.2117T>C | NP_644671.1:p.Leu706Ser | |
| XM_006712718.1:c.2117T>C | XP_006712781.1:p.Leu706Ser | |
| XM_017004783.2:c.2123T>C | XP_016860272.1:p.Leu708Ser | |
| XR_001738914.2:n.2510T>C | ||
| XR_001738915.2:n.2452T>C | ||
| NM_007315.4:c.2117T>C MANE Select | NP_009330.1:p.Leu706Ser | |
| NM_001384880.1:c.2057T>C | NP_001371809.1:p.Leu686Ser | |
| NM_001384881.1:c.2123T>C | NP_001371810.1:p.Leu708Ser | |
| NM_001384882.1:c.2111T>C | NP_001371811.1:p.Leu704Ser | |
| NM_001384883.1:c.2018T>C | NP_001371812.1:p.Leu673Ser | |
| NM_001384884.1:c.1963-962T>C | NP_001371813.1:n.1963-962T>C | |
| NM_001384885.1:c.1958T>C | NP_001371814.1:p.Leu653Ser | |
| NM_001384886.1:c.2141T>C | NP_001371815.1:p.Leu714Ser | |
| NM_001384887.1:c.2024T>C | NP_001371816.1:p.Leu675Ser | |
| NM_001384888.1:c.2087T>C | NP_001371817.1:p.Leu696Ser | |
| NM_001384889.1:c.2117T>C | NP_001371818.1:p.Leu706Ser | |
| NM_001384890.1:c.2027T>C | NP_001371819.1:p.Leu676Ser | |
| NM_001384891.1:c.2153T>C | NP_001371820.1:p.Leu718Ser | |
| NM_139266.3:c.2117T>C | NP_644671.1:p.Leu706Ser |