Linked Data
dbSNP Id:
rs11887698
gnomAD v2:
2-191854874-A-G
gnomAD v3:
2-190990148-A-G
gnomAD v4:
2-190990148-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.190990148A>G , CM000664.2:g.190990148A>G | GRCh38 |
| NC_000002.11:g.191854874A>G , CM000664.1:g.191854874A>G | GRCh37 |
| NC_000002.10:g.191563119A>G | NCBI36 |
| NG_008294.1:g.29103T>C , LRG_111:g.29103T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000698141.1:c.1038-474T>C | ENSP00000513582.1:n.1038-474T>C | |
| ENST00000698142.1:c.1037+1080T>C | ENSP00000513583.1:n.1037+1080T>C | |
| ENST00000698143.1:n.1198-474T>C | ||
| ENST00000698144.1:c.*364-474T>C | ENSP00000513584.1:n.*364-474T>C | |
| ENST00000698145.1:c.633+8069T>C | ENSP00000513585.1:n.633+8069T>C | |
| ENST00000698146.1:c.*788-474T>C | ENSP00000513586.1:n.*788-474T>C | |
| ENST00000698147.1:n.1365-474T>C | ||
| ENST00000698148.1:n.1365-474T>C | ||
| ENST00000698149.1:c.1038-474T>C | ENSP00000513587.1:n.1038-474T>C | |
| ENST00000698151.1:n.1365-474T>C | ||
| ENST00000361099.8:c.1038-474T>C MANE Select | ENSP00000354394.4:n.1038-474T>C | |
| ENST00000415035.2:c.1038-474T>C | ENSP00000388240.2:n.1038-474T>C | |
| ENST00000423282.2:c.129-13123T>C | ENSP00000388772.2:n.129-13123T>C | |
| ENST00000424722.6:c.948-474T>C | ENSP00000402548.2:n.948-474T>C | |
| ENST00000452281.6:c.*364-474T>C | ENSP00000394512.1:n.*364-474T>C | |
| ENST00000540176.6:c.1038-474T>C | ENSP00000438703.2:n.1038-474T>C | |
| ENST00000673638.1:n.1337-474T>C | ||
| ENST00000673734.1:c.*205-474T>C | ENSP00000501040.1:n.*205-474T>C | |
| ENST00000673777.1:c.1038-474T>C | ENSP00000500982.1:n.1038-474T>C | |
| ENST00000673816.1:c.1038-474T>C | ENSP00000501127.1:n.1038-474T>C | |
| ENST00000673841.1:c.1038-474T>C | ENSP00000501225.1:n.1038-474T>C | |
| ENST00000673847.1:c.1038-474T>C | ENSP00000501185.1:n.1038-474T>C | |
| ENST00000673858.1:c.*364-474T>C | ENSP00000501196.1:n.*364-474T>C | |
| ENST00000673859.1:n.1337-474T>C | ||
| ENST00000673863.1:c.39-6390T>C | ENSP00000501286.1:n.39-6390T>C | |
| ENST00000673885.1:c.1038-474T>C | ENSP00000501159.1:n.1038-474T>C | |
| ENST00000673942.1:c.1038-474T>C | ENSP00000501145.1:n.1038-474T>C | |
| ENST00000673952.1:c.1038-474T>C | ENSP00000501115.1:n.1038-474T>C | |
| ENST00000674028.1:n.311-13107T>C | ||
| ENST00000674080.1:c.1038-474T>C | ENSP00000501164.1:n.1038-474T>C | |
| ENST00000674081.1:c.1038-474T>C | ENSP00000501289.1:n.1038-474T>C | |
| ENST00000674153.1:c.1038-474T>C | ENSP00000501120.1:n.1038-474T>C | |
| ENST00000361099.7:c.1038-474T>C | ENSP00000354394.3:n.1038-474T>C | |
| ENST00000392322.7:c.1038-474T>C | ENSP00000376136.3:n.1038-474T>C | |
| ENST00000392323.6:c.1044-474T>C | ENSP00000376137.2:n.1044-474T>C | |
| ENST00000409465.5:c.1038-474T>C | ENSP00000386244.1:n.1038-474T>C | |
| ENST00000452281.5:c.*364-474T>C | ENSP00000394512.1:n.*364-474T>C | |
| ENST00000540176.5:c.*364-474T>C | ENSP00000438703.1:n.*364-474T>C | |
| NM_007315.3:c.1038-474T>C , LRG_111t1:c.1038-474T>C | NP_009330.1:n.1038-474T>C | |
| NM_139266.2:c.1038-474T>C | NP_644671.1:n.1038-474T>C | |
| XM_006712718.1:c.1038-474T>C | XP_006712781.1:n.1038-474T>C | |
| XM_017004783.2:c.1044-474T>C | XP_016860272.1:n.1044-474T>C | |
| XR_001738914.2:n.1431-474T>C | ||
| XR_001738915.2:n.1373-474T>C | ||
| NM_007315.4:c.1038-474T>C MANE Select | NP_009330.1:n.1038-474T>C | |
| NM_001384880.1:c.1037+1080T>C | NP_001371809.1:n.1037+1080T>C | |
| NM_001384881.1:c.1044-474T>C | NP_001371810.1:n.1044-474T>C | |
| NM_001384882.1:c.1038-474T>C | NP_001371811.1:n.1038-474T>C | |
| NM_001384883.1:c.939-474T>C | NP_001371812.1:n.939-474T>C | |
| NM_001384884.1:c.1044-474T>C | NP_001371813.1:n.1044-474T>C | |
| NM_001384885.1:c.879-474T>C | NP_001371814.1:n.879-474T>C | |
| NM_001384886.1:c.1038-474T>C | NP_001371815.1:n.1038-474T>C | |
| NM_001384887.1:c.945-474T>C | NP_001371816.1:n.945-474T>C | |
| NM_001384888.1:c.1038-474T>C | NP_001371817.1:n.1038-474T>C | |
| NM_001384889.1:c.1038-474T>C | NP_001371818.1:n.1038-474T>C | |
| NM_001384890.1:c.948-474T>C | NP_001371819.1:n.948-474T>C | |
| NM_001384891.1:c.1074-474T>C | NP_001371820.1:n.1074-474T>C | |
| NM_139266.3:c.1038-474T>C | NP_644671.1:n.1038-474T>C |