Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.120736991G>C , CM000674.2:g.120736991G>C | GRCh38 |
| NC_000012.11:g.121174794G>C , CM000674.1:g.121174794G>C | GRCh37 |
| NC_000012.10:g.119659177G>C | NCBI36 |
| NG_007991.1:g.16224G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000242592.9:c.216G>C MANE Select | ENSP00000242592.4:p.Lys72Asn | |
| ENST00000242592.8:c.216G>C | ENSP00000242592.4:p.Lys72Asn | |
| ENST00000411593.2:c.216G>C | ENSP00000401045.2:p.Lys72Asn | |
| ENST00000539690.1:n.328G>C | ||
| NM_000017.3:c.216G>C | NP_000008.1:p.Lys72Asn | |
| NM_001302554.1:c.216G>C | NP_001289483.1:p.Lys72Asn | |
| NM_000017.4:c.216G>C MANE Select | NP_000008.1:p.Lys72Asn | |
| NM_001302554.2:c.216G>C | NP_001289483.1:p.Lys72Asn |