Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23417099C>G , CM000678.2:g.23417099C>G | GRCh38 |
| NC_000016.9:g.23428420C>G , CM000678.1:g.23428420C>G | GRCh37 |
| NC_000016.8:g.23335921C>G | NCBI36 |
| NG_021287.1:g.41093G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307149.10:c.1160G>C MANE Select | ENSP00000305442.5:p.Cys387Ser | |
| ENST00000307149.9:c.1160G>C | ENSP00000305442.5:p.Cys387Ser | |
| ENST00000567821.1:n.195G>C | ||
| NM_153603.3:c.1160G>C | NP_705831.1:p.Cys387Ser | |
| XR_429680.1:n.1376G>C | ||
| XM_017023870.1:c.965G>C | XP_016879359.1:p.Cys322Ser | |
| XR_002957852.1:n.1381G>C | ||
| XR_429680.2:n.1381G>C | ||
| NM_153603.4:c.1160G>C MANE Select | NP_705831.1:p.Cys387Ser |