Linked Data
dbSNP Id:
rs2234895
ExAC:
16:27357927 C / T
gnomAD v2:
16-27357927-C-T
gnomAD v3:
16-27346606-C-T
gnomAD v4:
16-27346606-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.27346606C>T , CM000678.2:g.27346606C>T | GRCh38 |
| NC_000016.9:g.27357927C>T , CM000678.1:g.27357927C>T | GRCh37 |
| NC_000016.8:g.27265428C>T | NCBI36 |
| NG_012086.1:g.37677C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000395762.7:c.501C>T MANE Select | ENSP00000379111.2:p.Asn167= | |
| ENST00000170630.6:c.456C>T | ENSP00000170630.3:p.Asn152= | |
| ENST00000395762.6:c.501C>T | ENSP00000379111.2:p.Asn167= | |
| ENST00000543915.6:c.501C>T | ENSP00000441667.2:p.Asn167= | |
| ENST00000565696.1:n.521C>T | ||
| ENST00000566318.5:c.361+1586C>T | ENSP00000456248.1:n.361+1586C>T | |
| ENST00000568746.5:c.*544C>T | ENSP00000455714.1:n.*544C>T | |
| NM_000418.3:c.501C>T | NP_000409.1:p.Asn167= | |
| NM_001257406.1:c.501C>T | NP_001244335.1:p.Asn167= | |
| NM_001257407.1:c.456C>T | NP_001244336.1:p.Asn152= | |
| NM_001257997.1:c.26C>T | NP_001244926.1:p.Thr9Met | |
| XM_011545825.1:c.501C>T | XP_011544127.1:p.Asn167= | |
| XM_011545826.1:c.501C>T | XP_011544128.1:p.Asn167= | |
| XM_011545827.1:c.501C>T | XP_011544129.1:p.Asn167= | |
| XM_011545828.1:c.234C>T | XP_011544130.1:p.Asn78= | |
| XM_011545829.1:c.216+1586C>T | XP_011544131.1:n.216+1586C>T | |
| XM_011545830.1:c.216+1586C>T | XP_011544132.1:n.216+1586C>T | |
| XM_011545831.1:c.216+1586C>T | XP_011544133.1:n.216+1586C>T | |
| XM_011545832.1:c.216+1586C>T | XP_011544134.1:n.216+1586C>T | |
| XM_011545833.1:c.216+1586C>T | XP_011544135.1:n.216+1586C>T | |
| XM_011545834.1:c.90+1586C>T | XP_011544136.1:n.90+1586C>T | |
| XM_011545826.2:c.501C>T | XP_011544128.1:p.Asn167= | |
| XM_011545827.2:c.501C>T | XP_011544129.1:p.Asn167= | |
| XM_011545828.2:c.234C>T | XP_011544130.1:p.Asn78= | |
| XM_011545830.2:c.216+1586C>T | XP_011544132.1:n.216+1586C>T | |
| XM_011545833.2:c.216+1586C>T | XP_011544135.1:n.216+1586C>T | |
| XM_011545834.2:c.90+1586C>T | XP_011544136.1:n.90+1586C>T | |
| XM_017023211.1:c.501C>T | XP_016878700.1:p.Asn167= | |
| NM_000418.4:c.501C>T MANE Select | NP_000409.1:p.Asn167= | |
| NM_001257406.2:c.501C>T | NP_001244335.1:p.Asn167= | |
| NM_001257407.2:c.456C>T | NP_001244336.1:p.Asn152= | |
| NM_001257997.2:c.26C>T | NP_001244926.1:p.Thr9Met |