Linked Data
dbSNP Id:
rs781506575
ExAC:
7:40039092 A / C
gnomAD v2:
7-40039092-A-C
gnomAD v4:
7-39999493-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.39999493A>C , CM000669.2:g.39999493A>C | GRCh38 |
| NC_000007.13:g.40039092A>C , CM000669.1:g.40039092A>C | GRCh37 |
| NC_000007.12:g.40005617A>C | NCBI36 |
| NG_052965.1:g.54134A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000181839.10:c.2175A>C MANE Select | ENSP00000181839.4:p.Lys725Asn | |
| ENST00000340829.10:c.2175A>C | ENSP00000340557.5:p.Lys725Asn | |
| ENST00000484589.2:c.727A>C | ||
| ENST00000642213.1:n.657A>C | ||
| ENST00000643859.1:c.1066A>C | ||
| ENST00000643915.1:c.489A>C | ENSP00000496187.1:p.Lys163Asn | |
| ENST00000645470.1:c.105A>C | ENSP00000495036.1:p.Lys35Asn | |
| ENST00000646039.1:c.1515A>C | ENSP00000494168.1:p.Lys505Asn | |
| ENST00000647453.1:n.1244A>C | ||
| ENST00000647518.1:n.4012A>C | ||
| ENST00000181839.8:c.2175A>C | ENSP00000181839.4:p.Lys725Asn | |
| ENST00000340829.9:c.2175A>C | ENSP00000340557.5:p.Lys725Asn | |
| ENST00000484589.1:n.727A>C | ||
| ENST00000611390.1:c.333A>C | ENSP00000484610.1:p.Lys111Asn | |
| ENST00000613626.4:c.333A>C | ENSP00000480835.1:p.Lys111Asn | |
| NM_003718.4:c.2175A>C | NP_003709.3:p.Lys725Asn | |
| NM_031267.3:c.2175A>C | NP_112557.2:p.Lys725Asn | |
| XM_011515597.1:c.2175A>C | XP_011513899.1:p.Lys725Asn | |
| XM_011515598.1:c.2175A>C | XP_011513900.1:p.Lys725Asn | |
| XM_011515597.3:c.2175A>C | XP_011513899.1:p.Lys725Asn | |
| XM_017012750.2:c.2175A>C | XP_016868239.1:p.Lys725Asn | |
| XM_017012751.2:c.2175A>C | XP_016868240.1:p.Lys725Asn | |
| NM_003718.5:c.2175A>C MANE Select | NP_003709.3:p.Lys725Asn |