Linked Data
dbSNP Id:
rs145986556
ExAC:
11:119548518 C / G
gnomAD v3:
11-119677808-C-G
gnomAD v4:
11-119677808-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119677808C>G , CM000673.2:g.119677808C>G | GRCh38 |
| NC_000011.9:g.119548518C>G , CM000673.1:g.119548518C>G | GRCh37 |
| NC_000011.8:g.119053728C>G | NCBI36 |
| NG_013083.1:g.55918G>C | |
| NG_013083.2:g.55918G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000531468.2:c.480G>C | ENSP00000513010.1:p.Lys160Asn | |
| ENST00000264025.8:c.480G>C MANE Select | ENSP00000264025.3:p.Lys160Asn | |
| ENST00000264025.7:c.480G>C | ENSP00000264025.3:p.Lys160Asn | |
| ENST00000340882.2:c.480G>C | ENSP00000345289.2:p.Lys160Asn | |
| ENST00000341398.6:c.480G>C | ENSP00000344974.2:p.Lys160Asn | |
| ENST00000524510.1:n.454G>C | ||
| NM_002855.4:c.480G>C | NP_002846.3:p.Lys160Asn | |
| NM_203285.1:c.480G>C | NP_976030.1:p.Lys160Asn | |
| NM_203286.1:c.480G>C | NP_976031.1:p.Lys160Asn | |
| NM_002855.5:c.480G>C MANE Select | NP_002846.3:p.Lys160Asn | |
| NM_203285.2:c.480G>C | NP_976030.1:p.Lys160Asn | |
| NM_203286.2:c.480G>C | NP_976031.1:p.Lys160Asn |