Linked Data
dbSNP Id:
rs11727189
gnomAD v2:
4-106619140-G-T
gnomAD v3:
4-105697983-G-T
gnomAD v4:
4-105697983-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.105697983G>T , CM000666.2:g.105697983G>T | GRCh38 |
| NC_000004.11:g.106619140G>T , CM000666.1:g.106619140G>T | GRCh37 |
| NC_000004.10:g.106838589G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000340139.10:c.156+1867C>A (INTS12) MANE Select | ENSP00000340737.5:n.156+1867C>A | |
| ENST00000340139.9:c.156+1867C>A (INTS12) | ENSP00000340737.5:n.156+1867C>A | |
| ENST00000394735.5:c.156+1867C>A (INTS12) | ENSP00000378221.1:n.156+1867C>A | |
| ENST00000416543.5:c.156+1867C>A (INTS12) | ENSP00000396309.1:n.156+1867C>A | |
| ENST00000420368.6:c.156+1867C>A (INTS12) | ENSP00000412317.2:n.156+1867C>A | |
| ENST00000433009.1:c.156+1867C>A (INTS12) | ENSP00000396729.1:n.156+1867C>A | |
| ENST00000451321.6:c.156+1867C>A (INTS12) | ENSP00000415433.2:n.156+1867C>A | |
| ENST00000503746.5:c.156+1867C>A (INTS12) | ENSP00000423618.1:n.156+1867C>A | |
| ENST00000510406.1:n.163-2205G>T (ARHGEF38) | ||
| ENST00000618810.4:c.156+1867C>A (INTS12) | ENSP00000481164.1:n.156+1867C>A | |
| NM_001142471.1:c.156+1867C>A (INTS12) | NP_001135943.1:n.156+1867C>A | |
| NM_020395.3:c.156+1867C>A (INTS12) | NP_065128.2:n.156+1867C>A | |
| XM_005263148.3:c.156+1867C>A (INTS12) | XP_005263205.1:n.156+1867C>A | |
| XM_011532143.1:c.156+1867C>A (INTS12) | XP_011530445.1:n.156+1867C>A | |
| XM_011532144.1:c.156+1867C>A (INTS12) | XP_011530446.1:n.156+1867C>A | |
| XM_011532145.1:c.156+1867C>A (INTS12) | XP_011530447.1:n.156+1867C>A | |
| XR_938768.1:n.419+1867C>A (INTS12) | ||
| XM_005263148.5:c.156+1867C>A (INTS12) | XP_005263205.1:n.156+1867C>A | |
| XM_011532143.2:c.156+1867C>A (INTS12) | XP_011530445.1:n.156+1867C>A | |
| XM_011532145.2:c.156+1867C>A (INTS12) | XP_011530447.1:n.156+1867C>A | |
| XR_001741293.1:n.412+1867C>A (INTS12) | ||
| XR_001741294.1:n.253+1867C>A (INTS12) | ||
| NM_020395.4:c.156+1867C>A (INTS12) MANE Select | NP_065128.2:n.156+1867C>A | |
| NM_001142471.2:c.156+1867C>A (INTS12) | NP_001135943.1:n.156+1867C>A |