Linked Data
dbSNP Id:
rs889299
gnomAD v2:
16-23381914-G-A
gnomAD v3:
16-23370593-G-A
gnomAD v4:
16-23370593-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23370593G>A , CM000678.2:g.23370593G>A | GRCh38 |
| NC_000016.9:g.23381914G>A , CM000678.1:g.23381914G>A | GRCh37 |
| NC_000016.8:g.23289415G>A | NCBI36 |
| NG_011908.1:g.73324G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000343070.7:c.881-706G>A MANE Select | ENSP00000345751.2:n.881-706G>A | |
| ENST00000307331.9:c.1016-706G>A | ENSP00000302874.5:n.1016-706G>A | |
| ENST00000343070.6:c.881-706G>A | ENSP00000345751.2:n.881-706G>A | |
| ENST00000564275.5:c.777-706G>A | ENSP00000457754.1:n.777-706G>A | |
| ENST00000566441.2:c.178-706G>A | ||
| ENST00000568085.5:c.881-706G>A | ENSP00000455673.1:n.881-706G>A | |
| ENST00000568923.5:c.800-706G>A | ENSP00000456309.1:n.800-706G>A | |
| NM_000336.2:c.881-706G>A | NP_000327.2:n.881-706G>A | |
| XM_011545913.1:c.914-706G>A | XP_011544215.1:n.914-706G>A | |
| XM_011545914.1:c.899-706G>A | XP_011544216.1:n.899-706G>A | |
| XM_011545913.2:c.914-706G>A | XP_011544215.1:n.914-706G>A | |
| XM_017023525.1:c.938-706G>A | XP_016879014.1:n.938-706G>A | |
| XM_017023526.1:c.938-706G>A | XP_016879015.1:n.938-706G>A | |
| NM_000336.3:c.881-706G>A MANE Select | NP_000327.2:n.881-706G>A |