Linked Data
dbSNP Id:
rs107251
gnomAD v2:
19-4176085-T-C
gnomAD v3:
19-4176088-T-C
gnomAD v4:
19-4176088-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4176088T>C , CM000681.2:g.4176088T>C | GRCh38 |
| NC_000019.9:g.4176085T>C , CM000681.1:g.4176085T>C | GRCh37 |
| NC_000019.8:g.4127085T>C | NCBI36 |
| NG_047153.1:g.11512A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000337491.7:c.438-151A>G MANE Select | ENSP00000337332.1:n.438-151A>G | |
| ENST00000305232.10:c.438-151A>G | ENSP00000305310.5:n.438-151A>G | |
| ENST00000337491.6:c.438-151A>G | ENSP00000337332.1:n.438-151A>G | |
| ENST00000594279.5:c.222-151A>G | ENSP00000472023.1:n.222-151A>G | |
| ENST00000595670.5:n.433-151A>G | ||
| ENST00000596119.5:n.301-151A>G | ||
| ENST00000596298.5:n.433-151A>G | ||
| ENST00000597896.5:c.216-151A>G | ENSP00000470215.1:n.216-151A>G | |
| ENST00000599365.5:c.*178-151A>G | ENSP00000473085.1:n.*178-151A>G | |
| ENST00000599394.1:n.461-151A>G | ||
| ENST00000600540.5:n.336-151A>G | ||
| ENST00000600938.5:c.*178-151A>G | ENSP00000471123.1:n.*178-151A>G | |
| ENST00000601069.5:n.282-151A>G | ||
| ENST00000601488.5:c.255-151A>G | ENSP00000469001.1:n.255-151A>G | |
| ENST00000601571.1:c.249-151A>G | ENSP00000471837.1:n.249-151A>G | |
| NM_001193285.1:c.438-151A>G | NP_001180214.1:n.438-151A>G | |
| NM_016539.2:c.438-151A>G | NP_057623.2:n.438-151A>G | |
| XM_005259574.1:c.255-151A>G | XP_005259631.1:n.255-151A>G | |
| XM_005259575.1:c.222-151A>G | XP_005259632.1:n.222-151A>G | |
| XM_005259577.3:c.438-151A>G | XP_005259634.1:n.438-151A>G | |
| NM_001193285.2:c.438-151A>G | NP_001180214.1:n.438-151A>G | |
| NM_001321058.1:c.222-151A>G | NP_001307987.1:n.222-151A>G | |
| NM_001321059.1:c.255-151A>G | NP_001307988.1:n.255-151A>G | |
| NM_001321060.1:c.438-151A>G | NP_001307989.1:n.438-151A>G | |
| NM_001321061.1:c.222-151A>G | NP_001307990.1:n.222-151A>G | |
| NM_001321062.1:c.33-151A>G | NP_001307991.1:n.33-151A>G | |
| NM_001321063.1:c.255-151A>G | NP_001307992.1:n.255-151A>G | |
| NM_001321064.1:c.222-151A>G | NP_001307993.1:n.222-151A>G | |
| NM_016539.3:c.438-151A>G | NP_057623.2:n.438-151A>G | |
| XM_024451539.1:c.366-151A>G | XP_024307307.1:n.366-151A>G | |
| XM_024451540.1:c.222-151A>G | XP_024307308.1:n.222-151A>G | |
| NM_016539.4:c.438-151A>G MANE Select | NP_057623.2:n.438-151A>G | |
| NM_001193285.3:c.438-151A>G | NP_001180214.1:n.438-151A>G | |
| NM_001321058.2:c.222-151A>G | NP_001307987.1:n.222-151A>G | |
| NM_001321059.2:c.255-151A>G | NP_001307988.1:n.255-151A>G | |
| NM_001321060.2:c.438-151A>G | NP_001307989.1:n.438-151A>G | |
| NM_001321061.2:c.222-151A>G | NP_001307990.1:n.222-151A>G | |
| NM_001321062.2:c.33-151A>G | NP_001307991.1:n.33-151A>G | |
| NM_001321063.2:c.255-151A>G | NP_001307992.1:n.255-151A>G | |
| NM_001321064.2:c.222-151A>G | NP_001307993.1:n.222-151A>G |