Linked Data
dbSNP Id:
rs758501779
gnomAD v3:
11-68933804-A-C
gnomAD v4:
11-68933804-A-C
MyVariant Identifiers:
chr11:g.68701272A>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68933804A>C , CM000673.2:g.68933804A>C | GRCh38 |
| NC_000011.9:g.68701272A>C , CM000673.1:g.68701272A>C | GRCh37 |
| NC_000011.8:g.68457848A>C | NCBI36 |
| NG_007976.1:g.34954A>C , LRG_250:g.34954A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.1428A>C MANE Select | ENSP00000255078.4:p.Pro476= | |
| ENST00000674955.1:c.*145A>C | ENSP00000502463.1:n.*145A>C | |
| ENST00000675118.1:c.916A>C | ||
| ENST00000675205.1:n.183+323A>C | ||
| ENST00000675615.1:c.1428A>C | ENSP00000502413.1:p.Pro476= | |
| ENST00000675648.1:n.803A>C | ||
| ENST00000675997.1:n.113-660A>C | ||
| ENST00000676173.1:n.2173A>C | ||
| ENST00000676228.1:c.*751A>C | ENSP00000502375.1:n.*751A>C | |
| ENST00000255078.7:c.1428A>C | ENSP00000255078.3:p.Pro476= | |
| ENST00000537458.5:n.545A>C | ||
| ENST00000539064.5:n.1187A>C | ||
| ENST00000541229.5:n.123A>C | ||
| ENST00000543739.5:n.545A>C | ||
| NM_002180.2:c.1428A>C , LRG_250t1:c.1428A>C | NP_002171.2:p.Pro476= | |
| XM_005273974.2:c.417A>C | XP_005274031.1:p.Pro139= | |
| XM_005273975.2:c.300A>C | XP_005274032.1:p.Pro100= | |
| XM_011544994.1:c.195A>C | XP_011543296.1:p.Pro65= | |
| XR_949903.1:n.1530A>C | ||
| XM_005273975.3:c.300A>C | XP_005274032.1:p.Pro100= | |
| XM_017017669.2:c.417A>C | XP_016873158.1:p.Pro139= | |
| XM_017017670.2:c.417A>C | XP_016873159.1:p.Pro139= | |
| XM_017017671.2:c.1428A>C | XP_016873160.1:p.Pro476= | |
| XR_949903.3:n.1526A>C | ||
| NM_002180.3:c.1428A>C MANE Select | NP_002171.2:p.Pro476= |