Linked Data
dbSNP Id:
rs16984547
gnomAD v2:
19-53682042-T-C
gnomAD v3:
19-53178789-T-C
gnomAD v4:
19-53178789-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.53178789T>C , CM000681.2:g.53178789T>C | GRCh38 |
| NC_000019.9:g.53682042T>C , CM000681.1:g.53682042T>C | GRCh37 |
| NC_000019.8:g.58373854T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000396424.5:c.16-3218A>G MANE Select | ENSP00000379702.2:n.16-3218A>G | |
| ENST00000650736.1:c.16-3218A>G | ENSP00000498600.1:n.16-3218A>G | |
| ENST00000396424.4:c.16-3218A>G | ENSP00000379702.2:n.16-3218A>G | |
| ENST00000600412.1:c.-53-12442A>G | ENSP00000469154.1:n.-53-12442A>G | |
| NM_024733.3:c.16-3218A>G | NP_079009.3:n.16-3218A>G | |
| XM_005259266.3:c.16-3218A>G | XP_005259323.1:n.16-3218A>G | |
| XM_006723387.2:c.16-3218A>G | XP_006723450.1:n.16-3218A>G | |
| XM_006723388.2:c.16-3218A>G | XP_006723451.1:n.16-3218A>G | |
| XM_011527324.1:c.136-3218A>G | XP_011525626.1:n.136-3218A>G | |
| XM_011527325.1:c.67-3218A>G | XP_011525627.1:n.67-3218A>G | |
| XM_011527326.1:c.16-3218A>G | XP_011525628.1:n.16-3218A>G | |
| XM_011527327.1:c.9+818A>G | XP_011525629.1:n.9+818A>G | |
| XM_011527328.1:c.9+818A>G | XP_011525630.1:n.9+818A>G | |
| XM_011527329.1:c.9+818A>G | XP_011525631.1:n.9+818A>G | |
| XM_011527330.1:c.9+818A>G | XP_011525632.1:n.9+818A>G | |
| XM_011527331.1:c.70+4095A>G | XP_011525633.1:n.70+4095A>G | |
| NM_001353457.1:c.9+818A>G | NP_001340386.1:n.9+818A>G | |
| NM_001353458.1:c.99+892A>G | NP_001340387.1:n.99+892A>G | |
| NM_001353459.1:c.16-3218A>G | NP_001340388.1:n.16-3218A>G | |
| NM_024733.4:c.16-3218A>G | NP_079009.3:n.16-3218A>G | |
| XM_011527325.3:c.67-3218A>G | XP_011525627.1:n.67-3218A>G | |
| NM_024733.5:c.16-3218A>G MANE Select | NP_079009.3:n.16-3218A>G | |
| NM_001353457.2:c.9+818A>G | NP_001340386.1:n.9+818A>G | |
| NM_001353458.2:c.99+892A>G | NP_001340387.1:n.99+892A>G | |
| NM_001353459.2:c.16-3218A>G | NP_001340388.1:n.16-3218A>G |