Linked Data
dbSNP Id:
rs377446055
ExAC:
16:31200397 T / G
gnomAD v2:
16-31200397-T-G
gnomAD v3:
16-31189076-T-G
gnomAD v4:
16-31189076-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.31189076T>G , CM000678.2:g.31189076T>G | GRCh38 |
| NC_000016.9:g.31200397T>G , CM000678.1:g.31200397T>G | GRCh37 |
| NC_000016.8:g.31107898T>G | NCBI36 |
| NG_012889.2:g.13945T>G , LRG_655:g.13945T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254108.12:c.833-47T>G MANE Select | ENSP00000254108.8:n.833-47T>G | |
| ENST00000254108.11:c.833-47T>G | ENSP00000254108.7:n.833-47T>G | |
| ENST00000380244.7:c.830-47T>G | ENSP00000369594.3:n.830-47T>G | |
| ENST00000474990.5:n.127-47T>G | ||
| ENST00000487509.6:n.4008-47T>G | ||
| ENST00000564766.1:n.610T>G | ||
| ENST00000566605.5:c.*6-47T>G | ENSP00000455073.1:n.*6-47T>G | |
| ENST00000568685.1:c.833-44T>G | ENSP00000455282.1:n.833-44T>G | |
| ENST00000568901.2:n.207-47T>G | ||
| NM_001170634.1:c.830-47T>G | NP_001164105.1:n.830-47T>G | |
| NM_001170937.1:c.821-47T>G | NP_001164408.1:n.821-47T>G | |
| NM_004960.3:c.833-47T>G , LRG_655t1:c.833-47T>G | NP_004951.1:n.833-47T>G | |
| NR_028388.2:n.903-47T>G | ||
| XM_005255233.3:c.218-47T>G | XP_005255290.1:n.218-47T>G | |
| XM_011545781.1:c.827-47T>G | XP_011544083.1:n.827-47T>G | |
| XM_011545782.1:c.218-47T>G | XP_011544084.1:n.218-47T>G | |
| XM_005255233.5:c.218-47T>G | XP_005255290.1:n.218-47T>G | |
| XM_011545782.2:c.218-47T>G | XP_011544084.1:n.218-47T>G | |
| XM_024450221.1:c.824-47T>G | XP_024305989.1:n.824-47T>G | |
| NM_004960.4:c.833-47T>G MANE Select | NP_004951.1:n.833-47T>G |