Linked Data
dbSNP Id:
rs3932599
gnomAD v2:
9-86921941-G-A
gnomAD v3:
9-84307026-G-A
gnomAD v4:
9-84307026-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.84307026G>A , CM000671.2:g.84307026G>A | GRCh38 |
| NC_000009.11:g.86921941G>A , CM000671.1:g.86921941G>A | GRCh37 |
| NC_000009.10:g.86111761G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376238.5:c.243-1681C>T MANE Select | ENSP00000365413.4:n.243-1681C>T | |
| ENST00000376238.4:c.243-1681C>T | ENSP00000365413.4:n.243-1681C>T | |
| ENST00000495823.1:n.445-1681C>T | ||
| NM_001199633.1:c.243-1681C>T | NP_001186562.1:n.243-1681C>T | |
| NM_022127.2:c.243-1681C>T | NP_071410.1:n.243-1681C>T | |
| NR_037638.2:n.565-1681C>T | ||
| XM_011518905.1:c.418+2603C>T | XP_011517207.1:n.418+2603C>T | |
| XM_011518906.1:c.418+2603C>T | XP_011517208.1:n.418+2603C>T | |
| XM_011518907.1:c.85+2603C>T | XP_011517209.1:n.85+2603C>T | |
| XM_011518909.1:c.418+2603C>T | XP_011517211.1:n.418+2603C>T | |
| XM_011518910.1:c.418+2603C>T | XP_011517212.1:n.418+2603C>T | |
| XR_929832.1:n.545+2603C>T | ||
| XM_011518905.2:c.418+2603C>T | XP_011517207.1:n.418+2603C>T | |
| XM_011518906.2:c.418+2603C>T | XP_011517208.1:n.418+2603C>T | |
| XM_011518907.2:c.85+2603C>T | XP_011517209.1:n.85+2603C>T | |
| XM_011518909.2:c.418+2603C>T | XP_011517211.1:n.418+2603C>T | |
| XM_011518910.2:c.418+2603C>T | XP_011517212.1:n.418+2603C>T | |
| XR_929832.2:n.550+2603C>T | ||
| NM_001199633.2:c.243-1681C>T MANE Select | NP_001186562.1:n.243-1681C>T | |
| NM_022127.3:c.243-1681C>T | NP_071410.1:n.243-1681C>T | |
| NR_037638.3:n.544-1681C>T |