Linked Data
dbSNP Id:
rs490361
gnomAD v2:
6-126153253-T-C
gnomAD v3:
6-125832107-T-C
gnomAD v4:
6-125832107-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.125832107T>C , CM000668.2:g.125832107T>C | GRCh38 |
| NC_000006.11:g.126153253T>C , CM000668.1:g.126153253T>C | GRCh37 |
| NC_000006.10:g.126194946T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000392477.7:c.50+16703T>C MANE Select | ENSP00000376269.2:n.50+16703T>C | |
| ENST00000229634.13:c.-42+16703T>C | ENSP00000229634.9:n.-42+16703T>C | |
| ENST00000368357.7:c.50+16703T>C | ENSP00000357341.3:n.50+16703T>C | |
| ENST00000392477.6:c.50+16703T>C | ENSP00000376269.2:n.50+16703T>C | |
| ENST00000417494.5:c.50+16703T>C | ENSP00000406363.1:n.50+16703T>C | |
| ENST00000419660.1:c.50+16703T>C | ENSP00000408211.1:n.50+16703T>C | |
| ENST00000428318.1:c.50+16703T>C | ENSP00000407426.1:n.50+16703T>C | |
| ENST00000453302.5:c.50+16703T>C | ENSP00000403643.1:n.50+16703T>C | |
| ENST00000487635.1:n.187+16703T>C | ||
| NM_001122842.2:c.50+16703T>C | NP_001116314.1:n.50+16703T>C | |
| NM_001199619.1:c.50+16703T>C | NP_001186548.1:n.50+16703T>C | |
| NM_001199620.1:c.50+16703T>C | NP_001186549.1:n.50+16703T>C | |
| NM_001199621.1:c.-42+16703T>C | NP_001186550.1:n.-42+16703T>C | |
| NM_181782.4:c.50+16703T>C | NP_861447.3:n.50+16703T>C | |
| XM_005266822.3:c.50+16703T>C | XP_005266879.1:n.50+16703T>C | |
| XM_006715340.2:c.50+16703T>C | XP_006715403.1:n.50+16703T>C | |
| XM_011535455.1:c.50+16703T>C | XP_011533757.1:n.50+16703T>C | |
| XR_245505.1:n.419+16703T>C | ||
| XM_005266822.4:c.50+16703T>C | XP_005266879.1:n.50+16703T>C | |
| XM_006715340.4:c.50+16703T>C | XP_006715403.1:n.50+16703T>C | |
| XM_011535455.2:c.50+16703T>C | XP_011533757.1:n.50+16703T>C | |
| XM_017010269.1:c.50+16703T>C | XP_016865758.1:n.50+16703T>C | |
| XM_017010270.1:c.50+16703T>C | XP_016865759.1:n.50+16703T>C | |
| XM_017010271.1:c.50+16703T>C | XP_016865760.1:n.50+16703T>C | |
| XM_017010272.2:c.50+16703T>C | XP_016865761.1:n.50+16703T>C | |
| XM_017010273.2:c.50+16703T>C | XP_016865762.1:n.50+16703T>C | |
| XM_017010274.2:c.50+16703T>C | XP_016865763.1:n.50+16703T>C | |
| XM_024446331.1:c.50+16703T>C | XP_024302099.1:n.50+16703T>C | |
| XM_024446332.1:c.50+16703T>C | XP_024302100.1:n.50+16703T>C | |
| XR_001743165.2:n.229+16703T>C | ||
| NM_181782.5:c.50+16703T>C MANE Select | NP_861447.3:n.50+16703T>C | |
| NM_001122842.3:c.50+16703T>C | NP_001116314.1:n.50+16703T>C | |
| NM_001199619.2:c.50+16703T>C | NP_001186548.1:n.50+16703T>C | |
| NM_001199620.2:c.50+16703T>C | NP_001186549.1:n.50+16703T>C | |
| NM_001199621.2:c.-42+16703T>C | NP_001186550.1:n.-42+16703T>C |