Linked Data
dbSNP Id:
rs372195202
ExAC:
12:110011289 C / T
gnomAD v2:
12-110011289-C-T
gnomAD v4:
12-109573484-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.109573484C>T , CM000674.2:g.109573484C>T | GRCh38 |
| NC_000012.11:g.110011289C>T , CM000674.1:g.110011289C>T | GRCh37 |
| NC_000012.10:g.108495672C>T | NCBI36 |
| NG_007096.1:g.5014G>A | |
| NG_007702.1:g.4790C>T , LRG_156:g.4790C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000546277.6:c.-102C>T (MVK) | ENSP00000438153.2:n.-102C>T | |
| ENST00000545712.7:c.-4G>A (MMAB) MANE Select | ENSP00000445920.1:n.-4G>A | |
| ENST00000420167.6:c.-4G>A (MMAB) | ENSP00000416136.2:n.-4G>A | |
| ENST00000503497.7:c.-4G>A (MMAB) | ENSP00000474881.1:n.-4G>A | |
| ENST00000535044.1:n.144C>T (MVK) | ||
| ENST00000537236.2:c.-4G>A (MMAB) | ENSP00000483818.1:n.-4G>A | |
| ENST00000537496.5:c.-4G>A (MMAB) | ENSP00000444793.1:n.-4G>A | |
| ENST00000539335.5:c.-93C>T (MVK) | ENSP00000440379.1:n.-93C>T | |
| ENST00000540016.5:c.-4G>A (MMAB) | ENSP00000474582.1:n.-4G>A | |
| ENST00000542390.5:n.24G>A (MMAB) | ||
| ENST00000544051.5:c.-4G>A (MMAB) | ENSP00000438079.1:n.-4G>A | |
| ENST00000545712.6:c.-4G>A (MMAB) | ENSP00000445920.1:n.-4G>A | |
| ENST00000546277.5:c.-102C>T (MVK) | ENSP00000438153.1:n.-102C>T | |
| NM_052845.3:c.-4G>A (MMAB) | NP_443077.1:n.-4G>A | |
| NR_038118.1:n.70G>A (MMAB) | ||
| XM_011538372.1:c.-102C>T (MVK) | XP_011536674.1:n.-102C>T | |
| XM_024448961.1:c.-4G>A (MMAB) | XP_024304729.1:n.-4G>A | |
| XM_024448982.1:c.-102C>T (MVK) | XP_024304750.1:n.-102C>T | |
| NM_052845.4:c.-4G>A (MMAB) MANE Select | NP_443077.1:n.-4G>A | |
| NR_038118.2:n.21G>A (MMAB) |