Linked Data
dbSNP Id:
rs10774665
gnomAD v2:
12-113292993-C-G
gnomAD v3:
12-112855188-C-G
gnomAD v4:
12-112855188-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.112855188C>G , CM000674.2:g.112855188C>G | GRCh38 |
| NC_000012.11:g.113292993C>G , CM000674.1:g.113292993C>G | GRCh37 |
| NC_000012.10:g.111777376C>G | NCBI36 |
| NG_052871.1:g.285092C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389385.9:c.230+7346C>G MANE Select | ENSP00000374036.4:n.230+7346C>G | |
| ENST00000389385.8:c.230+7346C>G | ENSP00000374036.4:n.230+7346C>G | |
| ENST00000415485.7:c.230+7346C>G | ENSP00000405357.3:n.230+7346C>G | |
| ENST00000543106.6:c.230+7346C>G | ENSP00000440384.2:n.230+7346C>G | |
| ENST00000546703.5:c.230+7346C>G | ENSP00000446556.1:n.230+7346C>G | |
| ENST00000547099.5:c.*156+7346C>G | ENSP00000448662.1:n.*156+7346C>G | |
| ENST00000547222.1:n.124+4274C>G | ||
| ENST00000547686.5:c.230+7346C>G | ENSP00000449705.1:n.230+7346C>G | |
| ENST00000547728.5:c.230+7346C>G | ENSP00000449613.1:n.230+7346C>G | |
| ENST00000547840.5:c.230+7346C>G | ENSP00000450382.1:n.230+7346C>G | |
| ENST00000548197.5:c.230+7346C>G | ENSP00000446570.1:n.230+7346C>G | |
| ENST00000548866.5:c.84-10226C>G | ENSP00000450347.1:n.84-10226C>G | |
| ENST00000549769.5:c.230+7346C>G | ENSP00000447505.1:n.230+7346C>G | |
| ENST00000550901.5:c.29+7346C>G | ENSP00000448100.1:n.29+7346C>G | |
| ENST00000551052.5:c.218+7346C>G | ENSP00000448297.1:n.218+7346C>G | |
| ENST00000551198.5:c.230+7346C>G | ENSP00000447083.1:n.230+7346C>G | |
| ENST00000551593.5:c.230+7346C>G | ENSP00000446780.1:n.230+7346C>G | |
| ENST00000551748.5:c.230+7346C>G | ENSP00000447306.1:n.230+7346C>G | |
| ENST00000552667.5:c.230+7346C>G | ENSP00000449650.1:n.230+7346C>G | |
| ENST00000552679.6:n.374+7346C>G | ||
| ENST00000553114.5:c.230+7346C>G | ENSP00000450216.1:n.230+7346C>G | |
| NM_001143854.1:c.230+7346C>G | NP_001137326.1:n.230+7346C>G | |
| NM_014954.3:c.218+7346C>G | NP_055769.2:n.218+7346C>G | |
| XM_011538048.1:c.230+7346C>G | XP_011536350.1:n.230+7346C>G | |
| NM_001347952.1:c.230+7346C>G | NP_001334881.1:n.230+7346C>G | |
| NM_001347953.1:c.230+7346C>G | NP_001334882.1:n.230+7346C>G | |
| NM_001347954.1:c.230+7346C>G | NP_001334883.1:n.230+7346C>G | |
| NM_001347955.1:c.29+7346C>G | NP_001334884.1:n.29+7346C>G | |
| NR_145126.1:n.638+7346C>G | ||
| NR_145127.1:n.638+7346C>G | ||
| NM_001143854.2:c.230+7346C>G MANE Select | NP_001137326.1:n.230+7346C>G | |
| NM_001347952.2:c.230+7346C>G | NP_001334881.1:n.230+7346C>G | |
| NM_001347954.2:c.230+7346C>G | NP_001334883.1:n.230+7346C>G | |
| NM_001347955.2:c.29+7346C>G | NP_001334884.1:n.29+7346C>G | |
| NM_014954.4:c.218+7346C>G | NP_055769.2:n.218+7346C>G | |
| NR_145126.2:n.634+7346C>G | ||
| NR_145127.2:n.634+7346C>G |