Linked Data
dbSNP Id:
rs2238476
gnomAD v2:
16-16213872-G-A
gnomAD v3:
16-16120015-G-A
gnomAD v4:
16-16120015-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16120015G>A , CM000678.2:g.16120015G>A | GRCh38 |
| NC_000016.9:g.16213872G>A , CM000678.1:g.16213872G>A | GRCh37 |
| NC_000016.8:g.16121373G>A | NCBI36 |
| NG_028268.1:g.175439G>A | |
| NG_028268.2:g.175439G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000399408.7:c.3421-1960G>A | ENSP00000382340.4:n.3421-1960G>A | |
| ENST00000399410.8:c.3391-1960G>A MANE Select | ENSP00000382342.3:n.3391-1960G>A | |
| ENST00000572882.3:c.3214-1960G>A | ENSP00000461615.2:n.3214-1960G>A | |
| ENST00000677164.1:c.2920-1960G>A | ENSP00000502873.1:n.2920-1960G>A | |
| ENST00000678422.1:c.*683-1960G>A | ENSP00000503954.1:n.*683-1960G>A | |
| ENST00000399408.6:c.2443-1960G>A | ENSP00000382340.3:n.2443-1960G>A | |
| ENST00000399410.7:c.3391-1960G>A | ENSP00000382342.3:n.3391-1960G>A | |
| ENST00000572882.2:c.3116-1960G>A | ||
| ENST00000574761.1:n.868-1960G>A | ||
| NM_004996.3:c.3391-1960G>A | NP_004987.2:n.3391-1960G>A | |
| XM_011522497.1:c.3367-1960G>A | XP_011520799.1:n.3367-1960G>A | |
| XM_011522498.1:c.3298-1960G>A | XP_011520800.1:n.3298-1960G>A | |
| XM_011522498.2:c.3298-1960G>A | XP_011520800.1:n.3298-1960G>A | |
| XM_017023237.1:c.3445-1960G>A | XP_016878726.1:n.3445-1960G>A | |
| XM_017023238.1:c.3319-1960G>A | XP_016878727.1:n.3319-1960G>A | |
| XM_017023239.1:c.3307-1960G>A | XP_016878728.1:n.3307-1960G>A | |
| XM_017023240.1:c.3268-1960G>A | XP_016878729.1:n.3268-1960G>A | |
| XM_017023241.1:c.3181-1960G>A | XP_016878730.1:n.3181-1960G>A | |
| XM_017023242.1:c.3100-1960G>A | XP_016878731.1:n.3100-1960G>A | |
| NM_004996.4:c.3391-1960G>A MANE Select | NP_004987.2:n.3391-1960G>A |