Linked Data
dbSNP Id:
rs1423073186
gnomAD v2:
16-20449631-T-C
gnomAD v3:
16-20438309-T-C
gnomAD v4:
16-20438309-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.20438309T>C , CM000678.2:g.20438309T>C | GRCh38 |
| NC_000016.9:g.20449631T>C , CM000678.1:g.20449631T>C | GRCh37 |
| NC_000016.8:g.20357132T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331849.8:c.1536+942T>C MANE Select | ENSP00000327916.4:n.1536+942T>C | |
| ENST00000577024.1:n.449+942T>C | ||
| NM_017888.2:c.1536+942T>C | NP_060358.2:n.1536+942T>C | |
| XM_006721055.2:c.1536+942T>C | XP_006721118.1:n.1536+942T>C | |
| XM_006721056.2:c.1536+942T>C | XP_006721119.1:n.1536+942T>C | |
| NM_001324371.1:c.1536+942T>C | NP_001311300.1:n.1536+942T>C | |
| NM_001324372.1:c.1536+942T>C | NP_001311301.1:n.1536+942T>C | |
| NM_017888.3:c.1536+942T>C MANE Select | NP_060358.2:n.1536+942T>C | |
| NM_001324371.2:c.1536+942T>C | NP_001311300.1:n.1536+942T>C | |
| NM_001324372.2:c.1536+942T>C | NP_001311301.1:n.1536+942T>C |