Linked Data
ClinVar Variation Id:
403059
ClinVar RCV Id:
RCV000455783
dbSNP Id:
rs62073222
ExAC:
17:44374710 A / G
gnomAD v2:
17-44374710-A-G
gnomAD v3:
17-46297344-A-G
gnomAD v4:
17-46297344-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.46297344A>G , CM000679.2:g.46297344A>G | GRCh38 |
| NC_000017.10:g.44374710A>G , CM000679.1:g.44374710A>G | GRCh37 |
| NC_000017.9:g.41730487A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000705759.1:n.376+2182T>C (ARL17B) | ||
| ENST00000705760.1:n.138-800T>C (ARL17B) | ||
| ENST00000656849.1:c.*21+2182T>C (ARL17B) | ENSP00000499587.1:n.*21+2182T>C | |
| ENST00000320254.5:c.2211A>G (LRRC37A) MANE Select | ENSP00000326324.5:p.Pro737= | |
| ENST00000393465.7:c.2211A>G (LRRC37A) | ENSP00000377108.2:p.Pro737= | |
| ENST00000496930.5:c.-277-2450A>G (LRRC37A) | ENSP00000437021.1:n.-277-2450A>G | |
| ENST00000570618.5:c.*21+2182T>C (ARL17B) | ENSP00000459151.1:n.*21+2182T>C | |
| NM_014834.4:c.2211A>G (LRRC37A) MANE Select | NP_055649.4:p.Pro737= | |
| XM_005256918.3:c.*21+2182T>C (ARL17B) | XP_005256975.1:n.*21+2182T>C | |
| XM_005257879.3:c.2211A>G (LRRC37A) | XP_005257936.1:p.Pro737= | |
| XM_005257880.3:c.2211A>G (LRRC37A) | XP_005257937.1:p.Pro737= | |
| XM_005257882.3:c.1929A>G (LRRC37A) | XP_005257939.1:p.Pro643= | |
| XM_005257883.3:c.2211A>G (LRRC37A) | XP_005257940.1:p.Pro737= | |
| XM_005257884.3:c.2211A>G (LRRC37A) | XP_005257941.1:p.Pro737= | |
| XM_005257887.3:c.27-2450A>G (LRRC37A) | XP_005257944.1:n.27-2450A>G | |
| XM_006722208.2:c.2211A>G (LRRC37A) | XP_006722271.1:p.Pro737= | |
| XM_006722209.2:c.2211A>G (LRRC37A) | XP_006722272.1:p.Pro737= | |
| XM_006722210.2:c.2211A>G (LRRC37A) | XP_006722273.1:p.Pro737= | |
| XM_006722211.2:c.2211A>G (LRRC37A) | XP_006722274.1:p.Pro737= | |
| XM_011524161.1:c.*54-938T>C (ARL17B) | XP_011522463.1:n.*54-938T>C | |
| XM_011524162.1:c.*53+2182T>C (ARL17B) | XP_011522464.1:n.*53+2182T>C | |
| XM_011524163.1:c.*178+2182T>C (ARL17B) | XP_011522465.1:n.*178+2182T>C | |
| XM_011525539.1:c.2211A>G (LRRC37A) | XP_011523841.1:p.Pro737= | |
| XM_011525540.1:c.27-2450A>G (LRRC37A) | XP_011523842.1:n.27-2450A>G | |
| NM_001103154.2:c.*21+2182T>C (ARL17B) | NP_001096624.1:n.*21+2182T>C | |
| NM_001352769.1:c.*21+2182T>C (ARL17B) | NP_001339698.1:n.*21+2182T>C | |
| XM_011524161.3:c.*54-938T>C (ARL17B) | XP_011522463.1:n.*54-938T>C | |
| XM_011524162.3:c.*53+2182T>C (ARL17B) | XP_011522464.1:n.*53+2182T>C | |
| XM_011524163.3:c.*178+2182T>C (ARL17B) | XP_011522465.1:n.*178+2182T>C | |
| XM_024450519.1:c.*22-938T>C (ARL17B) | XP_024306287.1:n.*22-938T>C |